Canonical Allele Identifier: CA415234391

Gene: G6PD

Linked Data

• dbSNP Id: rs1557229827
• gnomAD v2: X-153761177-A-G
• gnomAD v4: X-154532962-A-G
• MyVariant Identifiers: chrX:g.153761177A>G (hg19) ; chrX:g.154532962A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532962A>G , CM000685.2:g.154532962A>G	GRCh38
NC_000023.10:g.153761177A>G , CM000685.1:g.153761177A>G	GRCh37
NC_000023.9:g.153414371A>G	NCBI36
NG_009015.2:g.19611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1031T>C	ENSP00000377194.2:p.Val344Ala
ENST00000439227.6:c.1034T>C	ENSP00000395599.2:p.Val345Ala
ENST00000696420.1:c.1031T>C	ENSP00000512615.1:p.Val344Ala
ENST00000696421.1:c.1031T>C	ENSP00000512616.1:p.Val344Ala
ENST00000696422.1:c.894T>C
ENST00000696423.1:c.897T>C
ENST00000696424.1:c.883T>C	ENSP00000512619.1:n.883T>C
ENST00000696425.1:c.865-160T>C	ENSP00000512620.1:n.865-160T>C
ENST00000696426.1:c.*491T>C	ENSP00000512621.1:n.*491T>C
ENST00000696427.1:c.1038T>C	ENSP00000512622.1:p.Cys346=
ENST00000696428.1:c.*873T>C	ENSP00000512623.1:n.*873T>C
ENST00000696429.1:c.1031T>C	ENSP00000512624.1:p.Val344Ala
ENST00000696430.1:c.1031T>C	ENSP00000512625.1:p.Val344Ala
ENST00000393562.10:c.1031T>C MANE Select	ENSP00000377192.3:p.Val344Ala
ENST00000369620.6:c.1169T>C	ENSP00000358633.2:p.Val390Ala
ENST00000393562.6:c.1121T>C	ENSP00000377192.2:p.Val374Ala
ENST00000393564.6:c.1031T>C	ENSP00000377194.2:p.Val344Ala
ENST00000490651.1:n.113T>C
ENST00000621232.4:c.1031T>C	ENSP00000483686.1:p.Val344Ala
NM_000402.4:c.1121T>C	NP_000393.4:p.Val374Ala
NM_001042351.2:c.1031T>C	NP_001035810.1:p.Val344Ala
XM_005274657.2:c.1124T>C	XP_005274714.1:p.Val375Ala
XM_005274658.2:c.1034T>C	XP_005274715.1:p.Val345Ala
XM_011531132.1:c.958-160T>C	XP_011529434.1:n.958-160T>C
NM_001360016.2:c.1031T>C MANE Select	NP_001346945.1:p.Val344Ala
NM_001042351.3:c.1031T>C	NP_001035810.1:p.Val344Ala