Canonical Allele Identifier: CA2499306188

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1065168
• ClinVar RCV Id: RCV001375611

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154533025A>G;154535277T>C] , CM000685.2:g.[154533025A>G;154535277T>C]	GRCh38
NC_000023.10:g.[153761240A>G;153763492T>C] , CM000685.1:g.[153761240A>G;153763492T>C]	GRCh37
NC_000023.9:g.[153414434A>G;153416686T>C]	NCBI36
NG_009015.2:g.[17296A>G;19548T>C]

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.[376A>G;968T>C]	ENSP00000377194.2:p.[Asn126Asp;Leu323Pro]...
ENST00000439227.6:c.[376A>G;971T>C]	ENSP00000395599.2:p.[Asn126Asp;Leu324Pro]...
ENST00000696420.1:c.[376A>G;968T>C]	ENSP00000512615.1:p.[Asn126Asp;Leu323Pro]...
ENST00000696421.1:c.[376A>G;968T>C]	ENSP00000512616.1:p.[Asn126Asp;Leu323Pro]...
ENST00000696422.1:c.[239A>G;831T>C]
ENST00000696423.1:c.[239A>G;834T>C]
ENST00000696424.1:c.[256A>G;820T>C]	ENSP00000512619.1:[p.Asn86Asp;n.820T>C]
ENST00000696425.1:c.[376A>G;865-223T>C]	ENSP00000512620.1:p.Asn126Asp
ENST00000696426.1:c.[376A>G;*428T>C]	ENSP00000512621.1:[p.Asn126Asp;n.*428T>C]...
ENST00000696427.1:c.[376A>G;975T>C]	ENSP00000512622.1:p.[Asn126Asp;Pro325=]
ENST00000696428.1:c.[*218A>G;*810T>C]	ENSP00000512623.1:n.[*218A>G;*810T>C]
ENST00000696429.1:c.[376A>G;968T>C]	ENSP00000512624.1:p.[Asn126Asp;Leu323Pro]...
ENST00000696430.1:c.[376A>G;968T>C]	ENSP00000512625.1:p.[Asn126Asp;Leu323Pro]...
ENST00000393562.10:c.[376A>G;968T>C] MANE Select	ENSP00000377192.3:p.[Asn126Asp;Leu323Pro]...
ENST00000369620.6:c.[376A>G;1106T>C]	ENSP00000358633.2:p.[Asn126Asp;Leu369Pro]...
ENST00000393562.6:c.[466A>G;1058T>C]	ENSP00000377192.2:p.[Asn156Asp;Leu353Pro]...
ENST00000393564.6:c.[376A>G;968T>C]	ENSP00000377194.2:p.[Asn126Asp;Leu323Pro]...
ENST00000439227.5:c.[376A>G;971T>C]	ENSP00000395599.1:p.[Asn126Asp;Leu324Pro]...
ENST00000621232.4:c.[376A>G;968T>C]	ENSP00000483686.1:p.[Asn126Asp;Leu323Pro]...
NM_000402.4:c.[466A>G;1058T>C]	NP_000393.4:p.[Asn156Asp;Leu353Pro]
NM_001042351.2:c.[376A>G;968T>C]	NP_001035810.1:p.[Asn126Asp;Leu323Pro]
XM_005274657.2:c.[466A>G;1061T>C]	XP_005274714.1:p.[Asn156Asp;Leu354Pro]
XM_005274658.2:c.[376A>G;971T>C]	XP_005274715.1:p.[Asn126Asp;Leu324Pro]
XM_011531132.1:c.[466A>G;958-223T>C]	XP_011529434.1:p.Asn156Asp
NM_001360016.2:c.[376A>G;968T>C] MANE Select	NP_001346945.1:p.[Asn126Asp;Leu323Pro]
NM_001042351.3:c.[376A>G;968T>C]	NP_001035810.1:p.[Asn126Asp;Leu323Pro]