Canonical Allele Identifier: CA2580573395

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722597
• ClinVar RCV Id: RCV002305707

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154533122C>T;154535277T>C] , CM000685.2:g.[154533122C>T;154535277T>C]	GRCh38
NC_000023.10:g.[153761337C>T;153763492T>C] , CM000685.1:g.[153761337C>T;153763492T>C]	GRCh37
NC_000023.9:g.[153414531C>T;153416686T>C]	NCBI36
NG_009015.2:g.[17296A>G;19451G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.[376A>G;871G>A]	ENSP00000377194.2:p.[Asn126Asp;Val291Met]...
ENST00000439227.6:c.[376A>G;874G>A]	ENSP00000395599.2:p.[Asn126Asp;Val292Met]...
ENST00000696420.1:c.[376A>G;871G>A]	ENSP00000512615.1:p.[Asn126Asp;Val291Met]...
ENST00000696421.1:c.[376A>G;871G>A]	ENSP00000512616.1:p.[Asn126Asp;Val291Met]...
ENST00000696422.1:c.[239A>G;734G>A]
ENST00000696423.1:c.[239A>G;737G>A]
ENST00000696424.1:c.[256A>G;723G>A]	ENSP00000512619.1:p.[Asn86Asp;Arg241=]
ENST00000696425.1:c.[376A>G;865-320G>A]	ENSP00000512620.1:p.Asn126Asp
ENST00000696426.1:c.[376A>G;*331G>A]	ENSP00000512621.1:[p.Asn126Asp;n.*331G>A]...
ENST00000696427.1:c.[376A>G;878G>A]	ENSP00000512622.1:p.[Asn126Asp;Gly293Asp]...
ENST00000696428.1:c.[*218A>G;*713G>A]	ENSP00000512623.1:n.[*218A>G;*713G>A]
ENST00000696429.1:c.[376A>G;871G>A]	ENSP00000512624.1:p.[Asn126Asp;Val291Met]...
ENST00000696430.1:c.[376A>G;871G>A]	ENSP00000512625.1:p.[Asn126Asp;Val291Met]...
ENST00000393562.10:c.[376A>G;871G>A] MANE Select	ENSP00000377192.3:p.[Asn126Asp;Val291Met]...
ENST00000369620.6:c.[376A>G;1009G>A]	ENSP00000358633.2:p.[Asn126Asp;Val337Met]...
ENST00000393562.6:c.[466A>G;961G>A]	ENSP00000377192.2:p.[Asn156Asp;Val321Met]...
ENST00000393564.6:c.[376A>G;871G>A]	ENSP00000377194.2:p.[Asn126Asp;Val291Met]...
ENST00000439227.5:c.[376A>G;874G>A]	ENSP00000395599.1:p.[Asn126Asp;Val292Met]...
ENST00000440967.5:c.[376A>G;874G>A]	ENSP00000400648.1:p.[Asn126Asp;Val292Met]...
ENST00000621232.4:c.[376A>G;871G>A]	ENSP00000483686.1:p.[Asn126Asp;Val291Met]...
NM_000402.4:c.[466A>G;961G>A]	NP_000393.4:p.[Asn156Asp;Val321Met]
NM_001042351.2:c.[376A>G;871G>A]	NP_001035810.1:p.[Asn126Asp;Val291Met]
XM_005274657.2:c.[466A>G;964G>A]	XP_005274714.1:p.[Asn156Asp;Val322Met]
XM_005274658.2:c.[376A>G;874G>A]	XP_005274715.1:p.[Asn126Asp;Val292Met]
XM_011531132.1:c.[466A>G;958-320G>A]	XP_011529434.1:p.Asn156Asp
NM_001360016.2:c.[376A>G;871G>A] MANE Select	NP_001346945.1:p.[Asn126Asp;Val291Met]
NM_001042351.3:c.[376A>G;871G>A]	NP_001035810.1:p.[Asn126Asp;Val291Met]