Canonical Allele Identifier: CA415234500

Gene: G6PD

Linked Data

• dbSNP Id: rs1379306569
• gnomAD v2: X-153761231-G-T
• gnomAD v4: X-154533016-G-T
• MyVariant Identifiers: chrX:g.153761231G>T (hg19) ; chrX:g.154533016G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533016G>T , CM000685.2:g.154533016G>T	GRCh38
NC_000023.10:g.153761231G>T , CM000685.1:g.153761231G>T	GRCh37
NC_000023.9:g.153414425G>T	NCBI36
NG_009015.2:g.19557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.977C>A	ENSP00000377194.2:p.Pro326His
ENST00000439227.6:c.980C>A	ENSP00000395599.2:p.Pro327His
ENST00000696420.1:c.977C>A	ENSP00000512615.1:p.Pro326His
ENST00000696421.1:c.977C>A	ENSP00000512616.1:p.Pro326His
ENST00000696422.1:c.840C>A
ENST00000696423.1:c.843C>A
ENST00000696424.1:c.829C>A	ENSP00000512619.1:n.829C>A
ENST00000696425.1:c.865-214C>A	ENSP00000512620.1:n.865-214C>A
ENST00000696426.1:c.*437C>A	ENSP00000512621.1:n.*437C>A
ENST00000696427.1:c.984C>A	ENSP00000512622.1:p.Pro328=
ENST00000696428.1:c.*819C>A	ENSP00000512623.1:n.*819C>A
ENST00000696429.1:c.977C>A	ENSP00000512624.1:p.Pro326His
ENST00000696430.1:c.977C>A	ENSP00000512625.1:p.Pro326His
ENST00000393562.10:c.977C>A MANE Select	ENSP00000377192.3:p.Pro326His
ENST00000369620.6:c.1115C>A	ENSP00000358633.2:p.Pro372His
ENST00000393562.6:c.1067C>A	ENSP00000377192.2:p.Pro356His
ENST00000393564.6:c.977C>A	ENSP00000377194.2:p.Pro326His
ENST00000439227.5:c.980C>A	ENSP00000395599.1:p.Pro327His
ENST00000490651.1:n.59C>A
ENST00000621232.4:c.977C>A	ENSP00000483686.1:p.Pro326His
NM_000402.4:c.1067C>A	NP_000393.4:p.Pro356His
NM_001042351.2:c.977C>A	NP_001035810.1:p.Pro326His
XM_005274657.2:c.1070C>A	XP_005274714.1:p.Pro357His
XM_005274658.2:c.980C>A	XP_005274715.1:p.Pro327His
XM_011531132.1:c.958-214C>A	XP_011529434.1:n.958-214C>A
NM_001360016.2:c.977C>A MANE Select	NP_001346945.1:p.Pro326His
NM_001042351.3:c.977C>A	NP_001035810.1:p.Pro326His