Canonical Allele Identifier: CA415234050

Gene: G6PD

Linked Data

• gnomAD v4: X-154532674-C-T
• COSMIC: COSM5153714 ; COSM5153715 ; COSM5153716
• MyVariant Identifiers: chrX:g.153760889C>T (hg19) ; chrX:g.154532674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532674C>T , CM000685.2:g.154532674C>T	GRCh38
NC_000023.10:g.153760889C>T , CM000685.1:g.153760889C>T	GRCh37
NC_000023.9:g.153414083C>T	NCBI36
NG_009015.2:g.19899G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1180G>A	ENSP00000377194.2:p.Val394Met
ENST00000439227.6:c.1183G>A	ENSP00000395599.2:p.Val395Met
ENST00000696420.1:c.1180G>A	ENSP00000512615.1:p.Val394Met
ENST00000696421.1:c.1180G>A	ENSP00000512616.1:p.Val394Met
ENST00000696422.1:c.1043G>A
ENST00000696423.1:c.1046G>A
ENST00000696424.1:c.1032G>A	ENSP00000512619.1:n.1032G>A
ENST00000696425.1:c.*93G>A	ENSP00000512620.1:n.*93G>A
ENST00000696426.1:c.*640G>A	ENSP00000512621.1:n.*640G>A
ENST00000696427.1:c.*140G>A	ENSP00000512622.1:n.*140G>A
ENST00000696428.1:c.*1022G>A	ENSP00000512623.1:n.*1022G>A
ENST00000696429.1:c.1180G>A	ENSP00000512624.1:p.Val394Met
ENST00000696430.1:c.1180G>A	ENSP00000512625.1:p.Val394Met
ENST00000393562.10:c.1180G>A MANE Select	ENSP00000377192.3:p.Val394Met
ENST00000369620.6:c.1318G>A	ENSP00000358633.2:p.Val440Met
ENST00000393562.6:c.1270G>A	ENSP00000377192.2:p.Val424Met
ENST00000393564.6:c.1180G>A	ENSP00000377194.2:p.Val394Met
ENST00000490651.1:n.401G>A
ENST00000621232.4:c.1180G>A	ENSP00000483686.1:p.Val394Met
NM_000402.4:c.1270G>A	NP_000393.4:p.Val424Met
NM_001042351.2:c.1180G>A	NP_001035810.1:p.Val394Met
XM_005274657.2:c.1273G>A	XP_005274714.1:p.Val425Met
XM_005274658.2:c.1183G>A	XP_005274715.1:p.Val395Met
XM_011531132.1:c.*93G>A	XP_011529434.1:n.*93G>A
NM_001360016.2:c.1180G>A MANE Select	NP_001346945.1:p.Val394Met
NM_001042351.3:c.1180G>A	NP_001035810.1:p.Val394Met