Canonical Allele Identifier: CA519281679

Linked Data

MyVariant Identifiers: chrX:g.153774275G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154546060G>A , CM000685.2:g.154546060G>A GRCh38
NC_000023.10:g.153774275G>A , CM000685.1:g.153774275G>A GRCh37
NC_000023.9:g.153427469G>A NCBI36
NG_009015.2:g.6513C>T
NG_009896.1:g.8817G>A , LRG_70:g.8817G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.96C>T (G6PD) ENSP00000377194.2:p.His32=
ENST00000439227.6:c.96C>T (G6PD) ENSP00000395599.2:p.His32=
ENST00000696420.1:c.96C>T (G6PD) ENSP00000512615.1:p.His32=
ENST00000696421.1:c.96C>T (G6PD) ENSP00000512616.1:p.His32=
ENST00000696425.1:c.96C>T (G6PD) ENSP00000512620.1:p.His32=
ENST00000696426.1:c.96C>T (G6PD) ENSP00000512621.1:p.His32=
ENST00000696427.1:c.96C>T (G6PD) ENSP00000512622.1:p.His32=
ENST00000696428.1:c.96C>T (G6PD) ENSP00000512623.1:p.His32=
ENST00000696429.1:c.96C>T (G6PD) ENSP00000512624.1:p.His32=
ENST00000696430.1:c.96C>T (G6PD) ENSP00000512625.1:p.His32=
ENST00000696431.1:c.96C>T (G6PD) ENSP00000512626.1:p.His32=
ENST00000422680.6:c.-16+3608G>A (IKBKG) ENSP00000390368.3:n.-16+3608G>A
ENST00000440286.6:c.-16+4669G>A (IKBKG) ENSP00000394934.2:n.-16+4669G>A
ENST00000445622.6:c.-146G>A (IKBKG) ENSP00000395205.2:n.-146G>A
ENST00000393562.10:c.96C>T (G6PD) MANE Select ENSP00000377192.3:p.His32=
ENST00000647501.1:n.162C>T (G6PD)
ENST00000369620.6:c.96C>T (G6PD) ENSP00000358633.2:p.His32=
ENST00000393562.6:c.186C>T (G6PD) ENSP00000377192.2:p.His62=
ENST00000393564.6:c.96C>T (G6PD) ENSP00000377194.2:p.His32=
ENST00000422680.5:c.-16+3608G>A (IKBKG) ENSP00000390368.2:n.-16+3608G>A
ENST00000433845.1:c.96C>T (G6PD) ENSP00000394690.1:p.His32=
ENST00000439227.5:c.96C>T (G6PD) ENSP00000395599.1:p.His32=
ENST00000440286.5:c.-16+4669G>A (IKBKG) ENSP00000394934.1:n.-16+4669G>A
ENST00000440967.5:c.96C>T (G6PD) ENSP00000400648.1:p.His32=
ENST00000445622.5:c.-146G>A (IKBKG) ENSP00000395205.1:n.-146G>A
ENST00000488434.1:n.50C>T (G6PD)
ENST00000497281.5:n.50C>T (G6PD)
ENST00000612051.1:c.124+3673G>A (IKBKG) ENSP00000480431.1:n.124+3673G>A
ENST00000618670.4:c.189+3608G>A (IKBKG) ENSP00000483825.1:n.189+3608G>A
ENST00000621232.4:c.96C>T (G6PD) ENSP00000483686.1:p.His32=
NM_000402.4:c.186C>T (G6PD) NP_000393.4:p.His62=
NM_001042351.2:c.96C>T (G6PD) NP_001035810.1:p.His32=
NM_001099856.3:c.189+3608G>A (IKBKG) NP_001093326.2:n.189+3608G>A
XM_005274657.2:c.186C>T (G6PD) XP_005274714.1:p.His62=
XM_005274658.2:c.96C>T (G6PD) XP_005274715.1:p.His32=
XM_005274760.3:c.189+3608G>A (IKBKG) XP_005274817.1:n.189+3608G>A
XM_005274761.3:c.189+3608G>A (IKBKG) XP_005274818.1:n.189+3608G>A
XM_011531132.1:c.186C>T (G6PD) XP_011529434.1:p.His62=
XM_011531203.1:c.189+3608G>A (IKBKG) XP_011529505.1:n.189+3608G>A
XM_011531204.1:c.-16+4669G>A (IKBKG) XP_011529506.1:n.-16+4669G>A
XM_011531205.1:c.-16+3608G>A (IKBKG) XP_011529507.1:n.-16+3608G>A
XM_011531206.1:c.189+3608G>A (IKBKG) XP_011529508.1:n.189+3608G>A
XM_011531207.1:c.189+3608G>A (IKBKG) XP_011529509.1:n.189+3608G>A
NM_001099856.4:c.189+3608G>A (IKBKG) NP_001093326.2:n.189+3608G>A
NM_001321396.1:c.-16+3673G>A (IKBKG) NP_001308325.1:n.-16+3673G>A
NM_001360016.2:c.96C>T (G6PD) MANE Select NP_001346945.1:p.His32=
NM_001042351.3:c.96C>T (G6PD) NP_001035810.1:p.His32=
NM_001099856.6:c.189+3608G>A (IKBKG) NP_001093326.2:n.189+3608G>A
NM_001321396.3:c.-16+3673G>A (IKBKG) NP_001308325.1:n.-16+3673G>A
NM_001377312.1:c.-16+4669G>A (IKBKG) NP_001364241.1:n.-16+4669G>A
NM_001377313.1:c.-16+4669G>A (IKBKG) NP_001364242.1:n.-16+4669G>A