Canonical Allele Identifier: CA415235155

Gene: G6PD

Linked Data

• dbSNP Id: rs2070368940
• gnomAD v4: X-154533604-G-A
• MyVariant Identifiers: chrX:g.153761819G>A (hg19) ; chrX:g.154533604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533604G>A , CM000685.2:g.154533604G>A	GRCh38
NC_000023.10:g.153761819G>A , CM000685.1:g.153761819G>A	GRCh37
NC_000023.9:g.153415013G>A	NCBI36
NG_009015.2:g.18969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.836C>T	ENSP00000377194.2:p.Thr279Ile
ENST00000439227.6:c.839C>T	ENSP00000395599.2:p.Thr280Ile
ENST00000696420.1:c.836C>T	ENSP00000512615.1:p.Thr279Ile
ENST00000696421.1:c.836C>T	ENSP00000512616.1:p.Thr279Ile
ENST00000696422.1:c.699C>T
ENST00000696423.1:c.702C>T
ENST00000696424.1:c.688C>T	ENSP00000512619.1:p.Pro230Ser
ENST00000696425.1:c.836C>T	ENSP00000512620.1:p.Thr279Ile
ENST00000696426.1:c.836C>T	ENSP00000512621.1:p.Thr279Ile
ENST00000696427.1:c.836C>T	ENSP00000512622.1:p.Thr279Ile
ENST00000696428.1:c.*678C>T	ENSP00000512623.1:n.*678C>T
ENST00000696429.1:c.836C>T	ENSP00000512624.1:p.Thr279Ile
ENST00000696430.1:c.836C>T	ENSP00000512625.1:p.Thr279Ile
ENST00000393562.10:c.836C>T MANE Select	ENSP00000377192.3:p.Thr279Ile
ENST00000369620.6:c.974C>T	ENSP00000358633.2:p.Thr325Ile
ENST00000393562.6:c.926C>T	ENSP00000377192.2:p.Thr309Ile
ENST00000393564.6:c.836C>T	ENSP00000377194.2:p.Thr279Ile
ENST00000439227.5:c.839C>T	ENSP00000395599.1:p.Thr280Ile
ENST00000440967.5:c.839C>T	ENSP00000400648.1:p.Thr280Ile
ENST00000489497.1:n.225C>T
ENST00000621232.4:c.836C>T	ENSP00000483686.1:p.Thr279Ile
NM_000402.4:c.926C>T	NP_000393.4:p.Thr309Ile
NM_001042351.2:c.836C>T	NP_001035810.1:p.Thr279Ile
XM_005274657.2:c.929C>T	XP_005274714.1:p.Thr310Ile
XM_005274658.2:c.839C>T	XP_005274715.1:p.Thr280Ile
XM_011531132.1:c.929C>T	XP_011529434.1:p.Thr310Ile
NM_001360016.2:c.836C>T MANE Select	NP_001346945.1:p.Thr279Ile
NM_001042351.3:c.836C>T	NP_001035810.1:p.Thr279Ile