Canonical Allele Identifier: CA10566008

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1093093
• ClinVar RCV Id: RCV001413155
• dbSNP Id: rs782797399
• ExAC: X:153760408 A / G
• gnomAD v2: X-153760408-A-G
• gnomAD v3: X-154532193-A-G
• gnomAD v4: X-154532193-A-G
• MyVariant Identifiers: chrX:g.153760408A>G (hg19) ; chrX:g.154532193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532193A>G , CM000685.2:g.154532193A>G	GRCh38
NC_000023.10:g.153760408A>G , CM000685.1:g.153760408A>G	GRCh37
NC_000023.9:g.153413602A>G	NCBI36
NG_009015.2:g.20380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1452T>C	ENSP00000377194.2:p.Tyr484=
ENST00000439227.6:c.1455T>C	ENSP00000395599.2:p.Tyr485=
ENST00000696420.1:c.1452T>C	ENSP00000512615.1:p.Tyr484=
ENST00000696421.1:c.1452T>C	ENSP00000512616.1:p.Tyr484=
ENST00000696422.1:c.1315T>C
ENST00000696423.1:c.1318T>C
ENST00000696424.1:c.1304T>C	ENSP00000512619.1:n.1304T>C
ENST00000696425.1:c.*365T>C	ENSP00000512620.1:n.*365T>C
ENST00000696426.1:c.*912T>C	ENSP00000512621.1:n.*912T>C
ENST00000696427.1:c.*412T>C	ENSP00000512622.1:n.*412T>C
ENST00000696428.1:c.*1294T>C	ENSP00000512623.1:n.*1294T>C
ENST00000696429.1:c.1452T>C	ENSP00000512624.1:p.Tyr484=
ENST00000696430.1:c.1452T>C	ENSP00000512625.1:p.Tyr484=
ENST00000393562.10:c.1452T>C MANE Select	ENSP00000377192.3:p.Tyr484=
ENST00000369620.6:c.1590T>C	ENSP00000358633.2:p.Tyr530=
ENST00000393562.6:c.1542T>C	ENSP00000377192.2:p.Tyr514=
ENST00000393564.6:c.1452T>C	ENSP00000377194.2:p.Tyr484=
ENST00000490651.1:n.673T>C
ENST00000621232.4:c.1452T>C	ENSP00000483686.1:p.Tyr484=
NM_000402.4:c.1542T>C	NP_000393.4:p.Tyr514=
NM_001042351.2:c.1452T>C	NP_001035810.1:p.Tyr484=
XM_005274657.2:c.1545T>C	XP_005274714.1:p.Tyr515=
XM_005274658.2:c.1455T>C	XP_005274715.1:p.Tyr485=
NM_001360016.2:c.1452T>C MANE Select	NP_001346945.1:p.Tyr484=
NM_001042351.3:c.1452T>C	NP_001035810.1:p.Tyr484=