Canonical Allele Identifier: CA519714466

Gene: G6PD

Linked Data

• ClinVar Variation Id: 2155951
• ClinVar RCV Id: RCV003075208
• dbSNP Id: rs1340788392
• gnomAD v3: X-154532657-G-A
• gnomAD v4: X-154532657-G-A
• MyVariant Identifiers: chrX:g.153760872G>A (hg19) ; chrX:g.154532657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532657G>A , CM000685.2:g.154532657G>A	GRCh38
NC_000023.10:g.153760872G>A , CM000685.1:g.153760872G>A	GRCh37
NC_000023.9:g.153414066G>A	NCBI36
NG_009015.2:g.19916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1197C>T	ENSP00000377194.2:p.Ala399=
ENST00000439227.6:c.1200C>T	ENSP00000395599.2:p.Ala400=
ENST00000696420.1:c.1197C>T	ENSP00000512615.1:p.Ala399=
ENST00000696421.1:c.1197C>T	ENSP00000512616.1:p.Ala399=
ENST00000696422.1:c.1060C>T
ENST00000696423.1:c.1063C>T
ENST00000696424.1:c.1049C>T	ENSP00000512619.1:n.1049C>T
ENST00000696425.1:c.*110C>T	ENSP00000512620.1:n.*110C>T
ENST00000696426.1:c.*657C>T	ENSP00000512621.1:n.*657C>T
ENST00000696427.1:c.*157C>T	ENSP00000512622.1:n.*157C>T
ENST00000696428.1:c.*1039C>T	ENSP00000512623.1:n.*1039C>T
ENST00000696429.1:c.1197C>T	ENSP00000512624.1:p.Ala399=
ENST00000696430.1:c.1197C>T	ENSP00000512625.1:p.Ala399=
ENST00000393562.10:c.1197C>T MANE Select	ENSP00000377192.3:p.Ala399=
ENST00000369620.6:c.1335C>T	ENSP00000358633.2:p.Ala445=
ENST00000393562.6:c.1287C>T	ENSP00000377192.2:p.Ala429=
ENST00000393564.6:c.1197C>T	ENSP00000377194.2:p.Ala399=
ENST00000490651.1:n.418C>T
ENST00000621232.4:c.1197C>T	ENSP00000483686.1:p.Ala399=
NM_000402.4:c.1287C>T	NP_000393.4:p.Ala429=
NM_001042351.2:c.1197C>T	NP_001035810.1:p.Ala399=
XM_005274657.2:c.1290C>T	XP_005274714.1:p.Ala430=
XM_005274658.2:c.1200C>T	XP_005274715.1:p.Ala400=
XM_011531132.1:c.*110C>T	XP_011529434.1:n.*110C>T
NM_001360016.2:c.1197C>T MANE Select	NP_001346945.1:p.Ala399=
NM_001042351.3:c.1197C>T	NP_001035810.1:p.Ala399=