Canonical Allele Identifier: CA415234974

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761343C>A (hg19) ; chrX:g.154533128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533128C>A , CM000685.2:g.154533128C>A	GRCh38
NC_000023.10:g.153761343C>A , CM000685.1:g.153761343C>A	GRCh37
NC_000023.9:g.153414537C>A	NCBI36
NG_009015.2:g.19445G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.865G>T	ENSP00000377194.2:p.Val289Phe
ENST00000439227.6:c.868G>T	ENSP00000395599.2:p.Val290Phe
ENST00000696420.1:c.865G>T	ENSP00000512615.1:p.Val289Phe
ENST00000696421.1:c.865G>T	ENSP00000512616.1:p.Val289Phe
ENST00000696422.1:c.728G>T
ENST00000696423.1:c.731G>T
ENST00000696424.1:c.717G>T	ENSP00000512619.1:p.Arg239Ser
ENST00000696425.1:c.865-326G>T	ENSP00000512620.1:n.865-326G>T
ENST00000696426.1:c.*325G>T	ENSP00000512621.1:n.*325G>T
ENST00000696427.1:c.872G>T	ENSP00000512622.1:p.Gly291Val
ENST00000696428.1:c.*707G>T	ENSP00000512623.1:n.*707G>T
ENST00000696429.1:c.865G>T	ENSP00000512624.1:p.Val289Phe
ENST00000696430.1:c.865G>T	ENSP00000512625.1:p.Val289Phe
ENST00000393562.10:c.865G>T MANE Select	ENSP00000377192.3:p.Val289Phe
ENST00000369620.6:c.1003G>T	ENSP00000358633.2:p.Val335Phe
ENST00000393562.6:c.955G>T	ENSP00000377192.2:p.Val319Phe
ENST00000393564.6:c.865G>T	ENSP00000377194.2:p.Val289Phe
ENST00000439227.5:c.868G>T	ENSP00000395599.1:p.Val290Phe
ENST00000440967.5:c.868G>T	ENSP00000400648.1:p.Val290Phe
ENST00000621232.4:c.865G>T	ENSP00000483686.1:p.Val289Phe
NM_000402.4:c.955G>T	NP_000393.4:p.Val319Phe
NM_001042351.2:c.865G>T	NP_001035810.1:p.Val289Phe
XM_005274657.2:c.958G>T	XP_005274714.1:p.Val320Phe
XM_005274658.2:c.868G>T	XP_005274715.1:p.Val290Phe
XM_011531132.1:c.958-326G>T	XP_011529434.1:n.958-326G>T
NM_001360016.2:c.865G>T MANE Select	NP_001346945.1:p.Val289Phe
NM_001042351.3:c.865G>T	NP_001035810.1:p.Val289Phe