Canonical Allele Identifier: CA415234472

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722701
• ClinVar RCV Id: RCV002305811
• dbSNP Id: rs868950643
• gnomAD v2: X-153761219-C-T
• gnomAD v4: X-154533004-C-T
• MyVariant Identifiers: chrX:g.153761219C>T (hg19) ; chrX:g.154533004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533004C>T , CM000685.2:g.154533004C>T	GRCh38
NC_000023.10:g.153761219C>T , CM000685.1:g.153761219C>T	GRCh37
NC_000023.9:g.153414413C>T	NCBI36
NG_009015.2:g.19569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.989G>A	ENSP00000377194.2:p.Arg330His
ENST00000439227.6:c.992G>A	ENSP00000395599.2:p.Arg331His
ENST00000696420.1:c.989G>A	ENSP00000512615.1:p.Arg330His
ENST00000696421.1:c.989G>A	ENSP00000512616.1:p.Arg330His
ENST00000696422.1:c.852G>A
ENST00000696423.1:c.855G>A
ENST00000696424.1:c.841G>A	ENSP00000512619.1:n.841G>A
ENST00000696425.1:c.865-202G>A	ENSP00000512620.1:n.865-202G>A
ENST00000696426.1:c.*449G>A	ENSP00000512621.1:n.*449G>A
ENST00000696427.1:c.996G>A	ENSP00000512622.1:p.Pro332=
ENST00000696428.1:c.*831G>A	ENSP00000512623.1:n.*831G>A
ENST00000696429.1:c.989G>A	ENSP00000512624.1:p.Arg330His
ENST00000696430.1:c.989G>A	ENSP00000512625.1:p.Arg330His
ENST00000393562.10:c.989G>A MANE Select	ENSP00000377192.3:p.Arg330His
ENST00000369620.6:c.1127G>A	ENSP00000358633.2:p.Arg376His
ENST00000393562.6:c.1079G>A	ENSP00000377192.2:p.Arg360His
ENST00000393564.6:c.989G>A	ENSP00000377194.2:p.Arg330His
ENST00000439227.5:c.992G>A	ENSP00000395599.1:p.Arg331His
ENST00000490651.1:n.71G>A
ENST00000621232.4:c.989G>A	ENSP00000483686.1:p.Arg330His
NM_000402.4:c.1079G>A	NP_000393.4:p.Arg360His
NM_001042351.2:c.989G>A	NP_001035810.1:p.Arg330His
XM_005274657.2:c.1082G>A	XP_005274714.1:p.Arg361His
XM_005274658.2:c.992G>A	XP_005274715.1:p.Arg331His
XM_011531132.1:c.958-202G>A	XP_011529434.1:n.958-202G>A
NM_001360016.2:c.989G>A MANE Select	NP_001346945.1:p.Arg330His
NM_001042351.3:c.989G>A	NP_001035810.1:p.Arg330His