Canonical Allele Identifier: CA415234723

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761283C>A (hg19) ; chrX:g.154533068C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533068C>A , CM000685.2:g.154533068C>A	GRCh38
NC_000023.10:g.153761283C>A , CM000685.1:g.153761283C>A	GRCh37
NC_000023.9:g.153414477C>A	NCBI36
NG_009015.2:g.19505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.925G>T	ENSP00000377194.2:p.Val309Leu
ENST00000439227.6:c.928G>T	ENSP00000395599.2:p.Val310Leu
ENST00000696420.1:c.925G>T	ENSP00000512615.1:p.Val309Leu
ENST00000696421.1:c.925G>T	ENSP00000512616.1:p.Val309Leu
ENST00000696422.1:c.788G>T
ENST00000696423.1:c.791G>T
ENST00000696424.1:c.777G>T	ENSP00000512619.1:n.777G>T
ENST00000696425.1:c.865-266G>T	ENSP00000512620.1:n.865-266G>T
ENST00000696426.1:c.*385G>T	ENSP00000512621.1:n.*385G>T
ENST00000696427.1:c.932G>T	ENSP00000512622.1:p.Arg311Leu
ENST00000696428.1:c.*767G>T	ENSP00000512623.1:n.*767G>T
ENST00000696429.1:c.925G>T	ENSP00000512624.1:p.Val309Leu
ENST00000696430.1:c.925G>T	ENSP00000512625.1:p.Val309Leu
ENST00000393562.10:c.925G>T MANE Select	ENSP00000377192.3:p.Val309Leu
ENST00000369620.6:c.1063G>T	ENSP00000358633.2:p.Val355Leu
ENST00000393562.6:c.1015G>T	ENSP00000377192.2:p.Val339Leu
ENST00000393564.6:c.925G>T	ENSP00000377194.2:p.Val309Leu
ENST00000439227.5:c.928G>T	ENSP00000395599.1:p.Val310Leu
ENST00000440967.5:c.928G>T	ENSP00000400648.1:p.Val310Leu
ENST00000490651.1:n.7G>T
ENST00000621232.4:c.925G>T	ENSP00000483686.1:p.Val309Leu
NM_000402.4:c.1015G>T	NP_000393.4:p.Val339Leu
NM_001042351.2:c.925G>T	NP_001035810.1:p.Val309Leu
XM_005274657.2:c.1018G>T	XP_005274714.1:p.Val340Leu
XM_005274658.2:c.928G>T	XP_005274715.1:p.Val310Leu
XM_011531132.1:c.958-266G>T	XP_011529434.1:n.958-266G>T
NM_001360016.2:c.925G>T MANE Select	NP_001346945.1:p.Val309Leu
NM_001042351.3:c.925G>T	NP_001035810.1:p.Val309Leu