Canonical Allele Identifier: CA415235094

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761805C>A (hg19) ; chrX:g.154533590C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533590C>A , CM000685.2:g.154533590C>A	GRCh38
NC_000023.10:g.153761805C>A , CM000685.1:g.153761805C>A	GRCh37
NC_000023.9:g.153414999C>A	NCBI36
NG_009015.2:g.18983G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.850G>T	ENSP00000377194.2:p.Val284Phe
ENST00000439227.6:c.853G>T	ENSP00000395599.2:p.Val285Phe
ENST00000696420.1:c.850G>T	ENSP00000512615.1:p.Val284Phe
ENST00000696421.1:c.850G>T	ENSP00000512616.1:p.Val284Phe
ENST00000696422.1:c.713G>T
ENST00000696423.1:c.716G>T
ENST00000696424.1:c.702G>T	ENSP00000512619.1:p.Thr234=
ENST00000696425.1:c.850G>T	ENSP00000512620.1:p.Val284Phe
ENST00000696426.1:c.850G>T	ENSP00000512621.1:p.Val284Phe
ENST00000696427.1:c.850G>T	ENSP00000512622.1:p.Val284Phe
ENST00000696428.1:c.*692G>T	ENSP00000512623.1:n.*692G>T
ENST00000696429.1:c.850G>T	ENSP00000512624.1:p.Val284Phe
ENST00000696430.1:c.850G>T	ENSP00000512625.1:p.Val284Phe
ENST00000393562.10:c.850G>T MANE Select	ENSP00000377192.3:p.Val284Phe
ENST00000369620.6:c.988G>T	ENSP00000358633.2:p.Val330Phe
ENST00000393562.6:c.940G>T	ENSP00000377192.2:p.Val314Phe
ENST00000393564.6:c.850G>T	ENSP00000377194.2:p.Val284Phe
ENST00000439227.5:c.853G>T	ENSP00000395599.1:p.Val285Phe
ENST00000440967.5:c.853G>T	ENSP00000400648.1:p.Val285Phe
ENST00000489497.1:n.239G>T
ENST00000621232.4:c.850G>T	ENSP00000483686.1:p.Val284Phe
NM_000402.4:c.940G>T	NP_000393.4:p.Val314Phe
NM_001042351.2:c.850G>T	NP_001035810.1:p.Val284Phe
XM_005274657.2:c.943G>T	XP_005274714.1:p.Val315Phe
XM_005274658.2:c.853G>T	XP_005274715.1:p.Val285Phe
XM_011531132.1:c.943G>T	XP_011529434.1:p.Val315Phe
NM_001360016.2:c.850G>T MANE Select	NP_001346945.1:p.Val284Phe
NM_001042351.3:c.850G>T	NP_001035810.1:p.Val284Phe