Canonical Allele Identifier: CA337315278

Gene: G6PD

Linked Data

• dbSNP Id: rs1050773
• MyVariant Identifiers: chrX:g.153759684G>A (hg19) ; chrX:g.154531469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531469G>A , CM000685.2:g.154531469G>A	GRCh38
NC_000023.10:g.153759684G>A , CM000685.1:g.153759684G>A	GRCh37
NC_000023.9:g.153412878G>A	NCBI36
NG_009015.2:g.21104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.*531C>T	ENSP00000377194.2:n.*531C>T
ENST00000439227.6:c.*531C>T	ENSP00000395599.2:n.*531C>T
ENST00000696420.1:c.1457+719C>T	ENSP00000512615.1:n.1457+719C>T
ENST00000696421.1:c.1457+719C>T	ENSP00000512616.1:n.1457+719C>T
ENST00000696422.1:c.1942C>T
ENST00000696423.1:c.1945C>T
ENST00000696424.1:c.1931C>T	ENSP00000512619.1:n.1931C>T
ENST00000696425.1:c.*992C>T	ENSP00000512620.1:n.*992C>T
ENST00000696426.1:c.*1539C>T	ENSP00000512621.1:n.*1539C>T
ENST00000696427.1:c.*1039C>T	ENSP00000512622.1:n.*1039C>T
ENST00000696428.1:c.*1921C>T	ENSP00000512623.1:n.*1921C>T
ENST00000696429.1:c.*531C>T	ENSP00000512624.1:n.*531C>T
ENST00000696430.1:c.*531C>T	ENSP00000512625.1:n.*531C>T
ENST00000393562.10:c.*531C>T MANE Select	ENSP00000377192.3:n.*531C>T
ENST00000393562.6:c.*531C>T	ENSP00000377192.2:n.*531C>T
ENST00000621232.4:c.*531C>T	ENSP00000483686.1:n.*531C>T
NM_000402.4:c.*531C>T	NP_000393.4:n.*531C>T
NM_001042351.2:c.*531C>T	NP_001035810.1:n.*531C>T
XM_005274657.2:c.*531C>T	XP_005274714.1:n.*531C>T
XM_005274658.2:c.*531C>T	XP_005274715.1:n.*531C>T
NM_001360016.2:c.*531C>T MANE Select	NP_001346945.1:n.*531C>T
NM_001042351.3:c.*531C>T	NP_001035810.1:n.*531C>T