Canonical Allele Identifier: CA10566038

Gene: G6PD

Linked Data

• ClinVar Variation Id: 289373
• ClinVar RCV Id: RCV002059264
• dbSNP Id: rs138919671
• ExAC: X:153760636 G / A
• gnomAD v2: X-153760636-G-A
• gnomAD v3: X-154532421-G-A
• gnomAD v4: X-154532421-G-A
• MyVariant Identifiers: chrX:g.153760636G>A (hg19) ; chrX:g.154532421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532421G>A , CM000685.2:g.154532421G>A	GRCh38
NC_000023.10:g.153760636G>A , CM000685.1:g.153760636G>A	GRCh37
NC_000023.9:g.153413830G>A	NCBI36
NG_009015.2:g.20152C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1329C>T	ENSP00000377194.2:p.Asp443=
ENST00000439227.6:c.1332C>T	ENSP00000395599.2:p.Asp444=
ENST00000696420.1:c.1329C>T	ENSP00000512615.1:p.Asp443=
ENST00000696421.1:c.1329C>T	ENSP00000512616.1:p.Asp443=
ENST00000696422.1:c.1192C>T
ENST00000696423.1:c.1195C>T
ENST00000696424.1:c.1181C>T	ENSP00000512619.1:n.1181C>T
ENST00000696425.1:c.*242C>T	ENSP00000512620.1:n.*242C>T
ENST00000696426.1:c.*789C>T	ENSP00000512621.1:n.*789C>T
ENST00000696427.1:c.*289C>T	ENSP00000512622.1:n.*289C>T
ENST00000696428.1:c.*1171C>T	ENSP00000512623.1:n.*1171C>T
ENST00000696429.1:c.1329C>T	ENSP00000512624.1:p.Asp443=
ENST00000696430.1:c.1329C>T	ENSP00000512625.1:p.Asp443=
ENST00000393562.10:c.1329C>T MANE Select	ENSP00000377192.3:p.Asp443=
ENST00000369620.6:c.1467C>T	ENSP00000358633.2:p.Asp489=
ENST00000393562.6:c.1419C>T	ENSP00000377192.2:p.Asp473=
ENST00000393564.6:c.1329C>T	ENSP00000377194.2:p.Asp443=
ENST00000490651.1:n.550C>T
ENST00000621232.4:c.1329C>T	ENSP00000483686.1:p.Asp443=
NM_000402.4:c.1419C>T	NP_000393.4:p.Asp473=
NM_001042351.2:c.1329C>T	NP_001035810.1:p.Asp443=
XM_005274657.2:c.1422C>T	XP_005274714.1:p.Asp474=
XM_005274658.2:c.1332C>T	XP_005274715.1:p.Asp444=
NM_001360016.2:c.1329C>T MANE Select	NP_001346945.1:p.Asp443=
NM_001042351.3:c.1329C>T	NP_001035810.1:p.Asp443=