Canonical Allele Identifier: CA1138582275

Gene: G6PD

Linked Data

• dbSNP Id: rs1557229250
• gnomAD v3: X-154531650-C-A
• gnomAD v4: X-154531650-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531650C>A , CM000685.2:g.154531650C>A	GRCh38
NC_000023.10:g.153759865C>A , CM000685.1:g.153759865C>A	GRCh37
NC_000023.9:g.153413059C>A	NCBI36
NG_009015.2:g.20923G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.*350G>T	ENSP00000377194.2:n.*350G>T
ENST00000439227.6:c.*350G>T	ENSP00000395599.2:n.*350G>T
ENST00000696420.1:c.1457+538G>T	ENSP00000512615.1:n.1457+538G>T
ENST00000696421.1:c.1457+538G>T	ENSP00000512616.1:n.1457+538G>T
ENST00000696422.1:c.1761G>T
ENST00000696423.1:c.1764G>T
ENST00000696424.1:c.1750G>T	ENSP00000512619.1:n.1750G>T
ENST00000696425.1:c.*811G>T	ENSP00000512620.1:n.*811G>T
ENST00000696426.1:c.*1358G>T	ENSP00000512621.1:n.*1358G>T
ENST00000696427.1:c.*858G>T	ENSP00000512622.1:n.*858G>T
ENST00000696428.1:c.*1740G>T	ENSP00000512623.1:n.*1740G>T
ENST00000696429.1:c.*350G>T	ENSP00000512624.1:n.*350G>T
ENST00000696430.1:c.*350G>T	ENSP00000512625.1:n.*350G>T
ENST00000393562.10:c.*350G>T MANE Select	ENSP00000377192.3:n.*350G>T
ENST00000393562.6:c.*350G>T	ENSP00000377192.2:n.*350G>T
ENST00000621232.4:c.*350G>T	ENSP00000483686.1:n.*350G>T
NM_000402.4:c.*350G>T	NP_000393.4:n.*350G>T
NM_001042351.2:c.*350G>T	NP_001035810.1:n.*350G>T
XM_005274657.2:c.*350G>T	XP_005274714.1:n.*350G>T
XM_005274658.2:c.*350G>T	XP_005274715.1:n.*350G>T
NM_001360016.2:c.*350G>T MANE Select	NP_001346945.1:n.*350G>T
NM_001042351.3:c.*350G>T	NP_001035810.1:n.*350G>T