Canonical Allele Identifier: CA519714388

Gene: G6PD

Linked Data

• dbSNP Id: rs2070349293
• gnomAD v4: X-154532418-G-C
• MyVariant Identifiers: chrX:g.153760633G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532418G>C , CM000685.2:g.154532418G>C	GRCh38
NC_000023.10:g.153760633G>C , CM000685.1:g.153760633G>C	GRCh37
NC_000023.9:g.153413827G>C	NCBI36
NG_009015.2:g.20155C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1332C>G	ENSP00000377194.2:p.Val444=
ENST00000439227.6:c.1335C>G	ENSP00000395599.2:p.Val445=
ENST00000696420.1:c.1332C>G	ENSP00000512615.1:p.Val444=
ENST00000696421.1:c.1332C>G	ENSP00000512616.1:p.Val444=
ENST00000696422.1:c.1195C>G
ENST00000696423.1:c.1198C>G
ENST00000696424.1:c.1184C>G	ENSP00000512619.1:n.1184C>G
ENST00000696425.1:c.*245C>G	ENSP00000512620.1:n.*245C>G
ENST00000696426.1:c.*792C>G	ENSP00000512621.1:n.*792C>G
ENST00000696427.1:c.*292C>G	ENSP00000512622.1:n.*292C>G
ENST00000696428.1:c.*1174C>G	ENSP00000512623.1:n.*1174C>G
ENST00000696429.1:c.1332C>G	ENSP00000512624.1:p.Val444=
ENST00000696430.1:c.1332C>G	ENSP00000512625.1:p.Val444=
ENST00000393562.10:c.1332C>G MANE Select	ENSP00000377192.3:p.Val444=
ENST00000369620.6:c.1470C>G	ENSP00000358633.2:p.Val490=
ENST00000393562.6:c.1422C>G	ENSP00000377192.2:p.Val474=
ENST00000393564.6:c.1332C>G	ENSP00000377194.2:p.Val444=
ENST00000490651.1:n.553C>G
ENST00000621232.4:c.1332C>G	ENSP00000483686.1:p.Val444=
NM_000402.4:c.1422C>G	NP_000393.4:p.Val474=
NM_001042351.2:c.1332C>G	NP_001035810.1:p.Val444=
XM_005274657.2:c.1425C>G	XP_005274714.1:p.Val475=
XM_005274658.2:c.1335C>G	XP_005274715.1:p.Val445=
NM_001360016.2:c.1332C>G MANE Select	NP_001346945.1:p.Val444=
NM_001042351.3:c.1332C>G	NP_001035810.1:p.Val444=