Canonical Allele Identifier: CA10566395

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154546782C>G , CM000685.2:g.154546782C>G GRCh38
NC_000023.10:g.153774997C>G , CM000685.1:g.153774997C>G GRCh37
NC_000023.9:g.153428191C>G NCBI36
NG_009015.2:g.5791G>C
NG_009896.1:g.9539C>G , LRG_70:g.9539C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.-8-619G>C (G6PD) ENSP00000377194.2:n.-8-619G>C
ENST00000439227.6:c.-9+7G>C (G6PD) ENSP00000395599.2:n.-9+7G>C
ENST00000696420.1:c.-9+7G>C (G6PD) ENSP00000512615.1:n.-9+7G>C
ENST00000696421.1:c.-9+7G>C (G6PD) ENSP00000512616.1:n.-9+7G>C
ENST00000696425.1:c.-9+7G>C (G6PD) ENSP00000512620.1:n.-9+7G>C
ENST00000696426.1:c.-9+7G>C (G6PD) ENSP00000512621.1:n.-9+7G>C
ENST00000696427.1:c.-9+7G>C (G6PD) ENSP00000512622.1:n.-9+7G>C
ENST00000696428.1:c.-9+7G>C (G6PD) ENSP00000512623.1:n.-9+7G>C
ENST00000696429.1:c.-9+244G>C (G6PD) ENSP00000512624.1:n.-9+244G>C
ENST00000696430.1:c.-9+281G>C (G6PD) ENSP00000512625.1:n.-9+281G>C
ENST00000696431.1:c.-67G>C (G6PD) ENSP00000512626.1:n.-67G>C
ENST00000422680.6:c.-16+4330C>G (IKBKG) ENSP00000390368.3:n.-16+4330C>G
ENST00000440286.6:c.-15-5206C>G (IKBKG) ENSP00000394934.2:n.-15-5206C>G
ENST00000445622.6:c.-16+592C>G (IKBKG) ENSP00000395205.2:n.-16+592C>G
ENST00000393562.10:c.-9+7G>C (G6PD) MANE Select ENSP00000377192.3:n.-9+7G>C
ENST00000647501.1:n.58+7G>C (G6PD)
ENST00000369620.6:c.-8-619G>C (G6PD) ENSP00000358633.2:n.-8-619G>C
ENST00000393562.6:c.82+7G>C (G6PD) ENSP00000377192.2:n.82+7G>C
ENST00000393564.6:c.-8-619G>C (G6PD) ENSP00000377194.2:n.-8-619G>C
ENST00000422680.5:c.-16+4330C>G (IKBKG) ENSP00000390368.2:n.-16+4330C>G
ENST00000433845.1:c.-5+7G>C (G6PD) ENSP00000394690.1:n.-5+7G>C
ENST00000439227.5:c.-9+7G>C (G6PD) ENSP00000395599.1:n.-9+7G>C
ENST00000440286.5:c.-15-5206C>G (IKBKG) ENSP00000394934.1:n.-15-5206C>G
ENST00000440967.5:c.-4-623G>C (G6PD) ENSP00000400648.1:n.-4-623G>C
ENST00000445622.5:c.-16+592C>G (IKBKG) ENSP00000395205.1:n.-16+592C>G
ENST00000612051.1:c.124+4395C>G (IKBKG) ENSP00000480431.1:n.124+4395C>G
ENST00000618670.4:c.189+4330C>G (IKBKG) ENSP00000483825.1:n.189+4330C>G
ENST00000621232.4:c.-9+7G>C (G6PD) ENSP00000483686.1:n.-9+7G>C
NM_000402.4:c.82+7G>C (G6PD) NP_000393.4:n.82+7G>C
NM_001042351.2:c.-8-619G>C (G6PD) NP_001035810.1:n.-8-619G>C
NM_001099856.3:c.189+4330C>G (IKBKG) NP_001093326.2:n.189+4330C>G
XM_005274657.2:c.82+7G>C (G6PD) XP_005274714.1:n.82+7G>C
XM_005274658.2:c.-8-619G>C (G6PD) XP_005274715.1:n.-8-619G>C
XM_005274760.3:c.189+4330C>G (IKBKG) XP_005274817.1:n.189+4330C>G
XM_005274761.3:c.189+4330C>G (IKBKG) XP_005274818.1:n.189+4330C>G
XM_011531132.1:c.82+7G>C (G6PD) XP_011529434.1:n.82+7G>C
XM_011531203.1:c.189+4330C>G (IKBKG) XP_011529505.1:n.189+4330C>G
XM_011531204.1:c.-15-5206C>G (IKBKG) XP_011529506.1:n.-15-5206C>G
XM_011531205.1:c.-16+4330C>G (IKBKG) XP_011529507.1:n.-16+4330C>G
XM_011531206.1:c.189+4330C>G (IKBKG) XP_011529508.1:n.189+4330C>G
XM_011531207.1:c.189+4330C>G (IKBKG) XP_011529509.1:n.189+4330C>G
NM_001099856.4:c.189+4330C>G (IKBKG) NP_001093326.2:n.189+4330C>G
NM_001321396.1:c.-16+4395C>G (IKBKG) NP_001308325.1:n.-16+4395C>G
NM_001360016.2:c.-9+7G>C (G6PD) MANE Select NP_001346945.1:n.-9+7G>C
NM_001042351.3:c.-8-619G>C (G6PD) NP_001035810.1:n.-8-619G>C
NM_001099856.6:c.189+4330C>G (IKBKG) NP_001093326.2:n.189+4330C>G
NM_001321396.3:c.-16+4395C>G (IKBKG) NP_001308325.1:n.-16+4395C>G
NM_001377312.1:c.-15-5206C>G (IKBKG) NP_001364241.1:n.-15-5206C>G
NM_001377313.1:c.-15-5206C>G (IKBKG) NP_001364242.1:n.-15-5206C>G