Canonical Allele Identifier: CA2842848451

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154546032T>C , CM000685.2:g.154546032T>C GRCh38
NC_000023.10:g.153774247T>C , CM000685.1:g.153774247T>C GRCh37
NC_000023.9:g.153427441T>C NCBI36
NG_009015.2:g.6541A>G
NG_009896.1:g.8789T>C , LRG_70:g.8789T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.120+4A>G (G6PD) ENSP00000377194.2:n.120+4A>G
ENST00000439227.6:c.120+4A>G (G6PD) ENSP00000395599.2:n.120+4A>G
ENST00000696420.1:c.120+4A>G (G6PD) ENSP00000512615.1:n.120+4A>G
ENST00000696421.1:c.120+4A>G (G6PD) ENSP00000512616.1:n.120+4A>G
ENST00000696425.1:c.120+4A>G (G6PD) ENSP00000512620.1:n.120+4A>G
ENST00000696426.1:c.120+4A>G (G6PD) ENSP00000512621.1:n.120+4A>G
ENST00000696427.1:c.120+4A>G (G6PD) ENSP00000512622.1:n.120+4A>G
ENST00000696428.1:c.120+4A>G (G6PD) ENSP00000512623.1:n.120+4A>G
ENST00000696429.1:c.120+4A>G (G6PD) ENSP00000512624.1:n.120+4A>G
ENST00000696430.1:c.120+4A>G (G6PD) ENSP00000512625.1:n.120+4A>G
ENST00000696431.1:c.120+4A>G (G6PD) ENSP00000512626.1:n.120+4A>G
ENST00000422680.6:c.-16+3580T>C (IKBKG) ENSP00000390368.3:n.-16+3580T>C
ENST00000440286.6:c.-16+4641T>C (IKBKG) ENSP00000394934.2:n.-16+4641T>C
ENST00000445622.6:c.-174T>C (IKBKG) ENSP00000395205.2:n.-174T>C
ENST00000393562.10:c.120+4A>G (G6PD) MANE Select ENSP00000377192.3:n.120+4A>G
ENST00000647501.1:n.190A>G (G6PD)
ENST00000369620.6:c.120+4A>G (G6PD) ENSP00000358633.2:n.120+4A>G
ENST00000393562.6:c.210+4A>G (G6PD) ENSP00000377192.2:n.210+4A>G
ENST00000393564.6:c.120+4A>G (G6PD) ENSP00000377194.2:n.120+4A>G
ENST00000422680.5:c.-16+3580T>C (IKBKG) ENSP00000390368.2:n.-16+3580T>C
ENST00000433845.1:c.120+4A>G (G6PD) ENSP00000394690.1:n.120+4A>G
ENST00000439227.5:c.120+4A>G (G6PD) ENSP00000395599.1:n.120+4A>G
ENST00000440286.5:c.-16+4641T>C (IKBKG) ENSP00000394934.1:n.-16+4641T>C
ENST00000440967.5:c.120+4A>G (G6PD) ENSP00000400648.1:n.120+4A>G
ENST00000445622.5:c.-174T>C (IKBKG) ENSP00000395205.1:n.-174T>C
ENST00000488434.1:n.74+4A>G (G6PD)
ENST00000497281.5:n.74+4A>G (G6PD)
ENST00000612051.1:c.124+3645T>C (IKBKG) ENSP00000480431.1:n.124+3645T>C
ENST00000618670.4:c.189+3580T>C (IKBKG) ENSP00000483825.1:n.189+3580T>C
ENST00000621232.4:c.120+4A>G (G6PD) ENSP00000483686.1:n.120+4A>G
NM_000402.4:c.210+4A>G (G6PD) NP_000393.4:n.210+4A>G
NM_001042351.2:c.120+4A>G (G6PD) NP_001035810.1:n.120+4A>G
NM_001099856.3:c.189+3580T>C (IKBKG) NP_001093326.2:n.189+3580T>C
XM_005274657.2:c.210+4A>G (G6PD) XP_005274714.1:n.210+4A>G
XM_005274658.2:c.120+4A>G (G6PD) XP_005274715.1:n.120+4A>G
XM_005274760.3:c.189+3580T>C (IKBKG) XP_005274817.1:n.189+3580T>C
XM_005274761.3:c.189+3580T>C (IKBKG) XP_005274818.1:n.189+3580T>C
XM_011531132.1:c.210+4A>G (G6PD) XP_011529434.1:n.210+4A>G
XM_011531203.1:c.189+3580T>C (IKBKG) XP_011529505.1:n.189+3580T>C
XM_011531204.1:c.-16+4641T>C (IKBKG) XP_011529506.1:n.-16+4641T>C
XM_011531205.1:c.-16+3580T>C (IKBKG) XP_011529507.1:n.-16+3580T>C
XM_011531206.1:c.189+3580T>C (IKBKG) XP_011529508.1:n.189+3580T>C
XM_011531207.1:c.189+3580T>C (IKBKG) XP_011529509.1:n.189+3580T>C
NM_001099856.4:c.189+3580T>C (IKBKG) NP_001093326.2:n.189+3580T>C
NM_001321396.1:c.-16+3645T>C (IKBKG) NP_001308325.1:n.-16+3645T>C
NM_001360016.2:c.120+4A>G (G6PD) MANE Select NP_001346945.1:n.120+4A>G
NM_001042351.3:c.120+4A>G (G6PD) NP_001035810.1:n.120+4A>G
NM_001099856.6:c.189+3580T>C (IKBKG) NP_001093326.2:n.189+3580T>C
NM_001321396.3:c.-16+3645T>C (IKBKG) NP_001308325.1:n.-16+3645T>C
NM_001377312.1:c.-16+4641T>C (IKBKG) NP_001364241.1:n.-16+4641T>C
NM_001377313.1:c.-16+4641T>C (IKBKG) NP_001364242.1:n.-16+4641T>C