Canonical Allele Identifier: CA415234010

Gene: G6PD

Linked Data

• dbSNP Id: rs1557229675
• gnomAD v2: X-153760871-C-T
• gnomAD v4: X-154532656-C-T
• MyVariant Identifiers: chrX:g.153760871C>T (hg19) ; chrX:g.154532656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532656C>T , CM000685.2:g.154532656C>T	GRCh38
NC_000023.10:g.153760871C>T , CM000685.1:g.153760871C>T	GRCh37
NC_000023.9:g.153414065C>T	NCBI36
NG_009015.2:g.19917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1198G>A	ENSP00000377194.2:p.Val400Met
ENST00000439227.6:c.1201G>A	ENSP00000395599.2:p.Val401Met
ENST00000696420.1:c.1198G>A	ENSP00000512615.1:p.Val400Met
ENST00000696421.1:c.1198G>A	ENSP00000512616.1:p.Val400Met
ENST00000696422.1:c.1061G>A
ENST00000696423.1:c.1064G>A
ENST00000696424.1:c.1050G>A	ENSP00000512619.1:n.1050G>A
ENST00000696425.1:c.*111G>A	ENSP00000512620.1:n.*111G>A
ENST00000696426.1:c.*658G>A	ENSP00000512621.1:n.*658G>A
ENST00000696427.1:c.*158G>A	ENSP00000512622.1:n.*158G>A
ENST00000696428.1:c.*1040G>A	ENSP00000512623.1:n.*1040G>A
ENST00000696429.1:c.1198G>A	ENSP00000512624.1:p.Val400Met
ENST00000696430.1:c.1198G>A	ENSP00000512625.1:p.Val400Met
ENST00000393562.10:c.1198G>A MANE Select	ENSP00000377192.3:p.Val400Met
ENST00000369620.6:c.1336G>A	ENSP00000358633.2:p.Val446Met
ENST00000393562.6:c.1288G>A	ENSP00000377192.2:p.Val430Met
ENST00000393564.6:c.1198G>A	ENSP00000377194.2:p.Val400Met
ENST00000490651.1:n.419G>A
ENST00000621232.4:c.1198G>A	ENSP00000483686.1:p.Val400Met
NM_000402.4:c.1288G>A	NP_000393.4:p.Val430Met
NM_001042351.2:c.1198G>A	NP_001035810.1:p.Val400Met
XM_005274657.2:c.1291G>A	XP_005274714.1:p.Val431Met
XM_005274658.2:c.1201G>A	XP_005274715.1:p.Val401Met
XM_011531132.1:c.*111G>A	XP_011529434.1:n.*111G>A
NM_001360016.2:c.1198G>A MANE Select	NP_001346945.1:p.Val400Met
NM_001042351.3:c.1198G>A	NP_001035810.1:p.Val400Met