Canonical Allele Identifier: CA1138582276

Gene: G6PD

Linked Data

• dbSNP Id: rs2070336195
• gnomAD v3: X-154531653-T-A
• gnomAD v4: X-154531653-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531653T>A , CM000685.2:g.154531653T>A	GRCh38
NC_000023.10:g.153759868T>A , CM000685.1:g.153759868T>A	GRCh37
NC_000023.9:g.153413062T>A	NCBI36
NG_009015.2:g.20920A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.*347A>T	ENSP00000377194.2:n.*347A>T
ENST00000439227.6:c.*347A>T	ENSP00000395599.2:n.*347A>T
ENST00000696420.1:c.1457+535A>T	ENSP00000512615.1:n.1457+535A>T
ENST00000696421.1:c.1457+535A>T	ENSP00000512616.1:n.1457+535A>T
ENST00000696422.1:c.1758A>T
ENST00000696423.1:c.1761A>T
ENST00000696424.1:c.1747A>T	ENSP00000512619.1:n.1747A>T
ENST00000696425.1:c.*808A>T	ENSP00000512620.1:n.*808A>T
ENST00000696426.1:c.*1355A>T	ENSP00000512621.1:n.*1355A>T
ENST00000696427.1:c.*855A>T	ENSP00000512622.1:n.*855A>T
ENST00000696428.1:c.*1737A>T	ENSP00000512623.1:n.*1737A>T
ENST00000696429.1:c.*347A>T	ENSP00000512624.1:n.*347A>T
ENST00000696430.1:c.*347A>T	ENSP00000512625.1:n.*347A>T
ENST00000393562.10:c.*347A>T MANE Select	ENSP00000377192.3:n.*347A>T
ENST00000393562.6:c.*347A>T	ENSP00000377192.2:n.*347A>T
ENST00000621232.4:c.*347A>T	ENSP00000483686.1:n.*347A>T
NM_000402.4:c.*347A>T	NP_000393.4:n.*347A>T
NM_001042351.2:c.*347A>T	NP_001035810.1:n.*347A>T
XM_005274657.2:c.*347A>T	XP_005274714.1:n.*347A>T
XM_005274658.2:c.*347A>T	XP_005274715.1:n.*347A>T
NM_001360016.2:c.*347A>T MANE Select	NP_001346945.1:n.*347A>T
NM_001042351.3:c.*347A>T	NP_001035810.1:n.*347A>T