Canonical Allele Identifier: CA415234680

Gene: G6PD

Linked Data

• gnomAD v4: X-154533058-G-C
• MyVariant Identifiers: chrX:g.153761273G>C (hg19) ; chrX:g.154533058G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533058G>C , CM000685.2:g.154533058G>C	GRCh38
NC_000023.10:g.153761273G>C , CM000685.1:g.153761273G>C	GRCh37
NC_000023.9:g.153414467G>C	NCBI36
NG_009015.2:g.19515C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.935C>G	ENSP00000377194.2:p.Pro312Arg
ENST00000439227.6:c.938C>G	ENSP00000395599.2:p.Pro313Arg
ENST00000696420.1:c.935C>G	ENSP00000512615.1:p.Pro312Arg
ENST00000696421.1:c.935C>G	ENSP00000512616.1:p.Pro312Arg
ENST00000696422.1:c.798C>G
ENST00000696423.1:c.801C>G
ENST00000696424.1:c.787C>G	ENSP00000512619.1:n.787C>G
ENST00000696425.1:c.865-256C>G	ENSP00000512620.1:n.865-256C>G
ENST00000696426.1:c.*395C>G	ENSP00000512621.1:n.*395C>G
ENST00000696427.1:c.942C>G	ENSP00000512622.1:p.Pro314=
ENST00000696428.1:c.*777C>G	ENSP00000512623.1:n.*777C>G
ENST00000696429.1:c.935C>G	ENSP00000512624.1:p.Pro312Arg
ENST00000696430.1:c.935C>G	ENSP00000512625.1:p.Pro312Arg
ENST00000393562.10:c.935C>G MANE Select	ENSP00000377192.3:p.Pro312Arg
ENST00000369620.6:c.1073C>G	ENSP00000358633.2:p.Pro358Arg
ENST00000393562.6:c.1025C>G	ENSP00000377192.2:p.Pro342Arg
ENST00000393564.6:c.935C>G	ENSP00000377194.2:p.Pro312Arg
ENST00000439227.5:c.938C>G	ENSP00000395599.1:p.Pro313Arg
ENST00000440967.5:c.938C>G	ENSP00000400648.1:p.Pro313Arg
ENST00000490651.1:n.17C>G
ENST00000621232.4:c.935C>G	ENSP00000483686.1:p.Pro312Arg
NM_000402.4:c.1025C>G	NP_000393.4:p.Pro342Arg
NM_001042351.2:c.935C>G	NP_001035810.1:p.Pro312Arg
XM_005274657.2:c.1028C>G	XP_005274714.1:p.Pro343Arg
XM_005274658.2:c.938C>G	XP_005274715.1:p.Pro313Arg
XM_011531132.1:c.958-256C>G	XP_011529434.1:n.958-256C>G
NM_001360016.2:c.935C>G MANE Select	NP_001346945.1:p.Pro312Arg
NM_001042351.3:c.935C>G	NP_001035810.1:p.Pro312Arg