Canonical Allele Identifier: CA2580573388

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722711
• ClinVar RCV Id: RCV002305821

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154536002C>T;154536156A>G] , CM000685.2:g.[154536002C>T;154536156A>G]	GRCh38
NC_000023.10:g.[153764217C>T;153764371A>G] , CM000685.1:g.[153764217C>T;153764371A>G]	GRCh37
NC_000023.9:g.[153417411C>T;153417565A>G]	NCBI36
NG_009015.2:g.[16417T>C;16571G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.[143T>C;202G>A]	ENSP00000377194.2:p.[Ile48Thr;Val68Met]
ENST00000439227.6:c.[143T>C;202G>A]	ENSP00000395599.2:p.[Ile48Thr;Val68Met]
ENST00000696420.1:c.[143T>C;202G>A]	ENSP00000512615.1:p.[Ile48Thr;Val68Met]
ENST00000696421.1:c.[143T>C;202G>A]	ENSP00000512616.1:p.[Ile48Thr;Val68Met]
ENST00000696422.1:c.[23T>C;82G>A]
ENST00000696423.1:c.[23T>C;82G>A]
ENST00000696424.1:c.[23T>C;82G>A]	ENSP00000512619.1:p.[Ile8Thr;Val28Met]
ENST00000696425.1:c.[143T>C;202G>A]	ENSP00000512620.1:p.[Ile48Thr;Val68Met]
ENST00000696426.1:c.[143T>C;202G>A]	ENSP00000512621.1:p.[Ile48Thr;Val68Met]
ENST00000696427.1:c.[143T>C;202G>A]	ENSP00000512622.1:p.[Ile48Thr;Val68Met]
ENST00000696428.1:c.[143T>C;*44G>A]	ENSP00000512623.1:[p.Ile48Thr;n.*44G>A]
ENST00000696429.1:c.[143T>C;202G>A]	ENSP00000512624.1:p.[Ile48Thr;Val68Met]
ENST00000696430.1:c.[143T>C;202G>A]	ENSP00000512625.1:p.[Ile48Thr;Val68Met]
ENST00000696431.1:c.[143T>C;202G>A]	ENSP00000512626.1:p.[Ile48Thr;Val68Met]
ENST00000393562.10:c.[143T>C;202G>A] MANE Select	ENSP00000377192.3:p.[Ile48Thr;Val68Met]
ENST00000369620.6:c.[143T>C;202G>A]	ENSP00000358633.2:p.[Ile48Thr;Val68Met]
ENST00000393562.6:c.[233T>C;292G>A]	ENSP00000377192.2:p.[Ile78Thr;Val98Met]
ENST00000393564.6:c.[143T>C;202G>A]	ENSP00000377194.2:p.[Ile48Thr;Val68Met]
ENST00000433845.1:c.[143T>C;202G>A]	ENSP00000394690.1:p.[Ile48Thr;Val68Met]
ENST00000439227.5:c.[143T>C;202G>A]	ENSP00000395599.1:p.[Ile48Thr;Val68Met]
ENST00000440967.5:c.[143T>C;202G>A]	ENSP00000400648.1:p.[Ile48Thr;Val68Met]
ENST00000488434.1:n.[97T>C;156G>A]
ENST00000497281.5:n.[97T>C;156G>A]
ENST00000621232.4:c.[143T>C;202G>A]	ENSP00000483686.1:p.[Ile48Thr;Val68Met]
NM_000402.4:c.[233T>C;292G>A]	NP_000393.4:p.[Ile78Thr;Val98Met]
NM_001042351.2:c.[143T>C;202G>A]	NP_001035810.1:p.[Ile48Thr;Val68Met]
XM_005274657.2:c.[233T>C;292G>A]	XP_005274714.1:p.[Ile78Thr;Val98Met]
XM_005274658.2:c.[143T>C;202G>A]	XP_005274715.1:p.[Ile48Thr;Val68Met]
XM_011531132.1:c.[233T>C;292G>A]	XP_011529434.1:p.[Ile78Thr;Val98Met]
NM_001360016.2:c.[143T>C;202G>A] MANE Select	NP_001346945.1:p.[Ile48Thr;Val68Met]
NM_001042351.3:c.[143T>C;202G>A]	NP_001035810.1:p.[Ile48Thr;Val68Met]