Canonical Allele Identifier: CA415233890

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760822T>A (hg19) ; chrX:g.154532607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532607T>A , CM000685.2:g.154532607T>A	GRCh38
NC_000023.10:g.153760822T>A , CM000685.1:g.153760822T>A	GRCh37
NC_000023.9:g.153414016T>A	NCBI36
NG_009015.2:g.19966A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1247A>T	ENSP00000377194.2:p.Glu416Val
ENST00000439227.6:c.1250A>T	ENSP00000395599.2:p.Glu417Val
ENST00000696420.1:c.1247A>T	ENSP00000512615.1:p.Glu416Val
ENST00000696421.1:c.1247A>T	ENSP00000512616.1:p.Glu416Val
ENST00000696422.1:c.1110A>T
ENST00000696423.1:c.1113A>T
ENST00000696424.1:c.1099A>T	ENSP00000512619.1:n.1099A>T
ENST00000696425.1:c.*160A>T	ENSP00000512620.1:n.*160A>T
ENST00000696426.1:c.*707A>T	ENSP00000512621.1:n.*707A>T
ENST00000696427.1:c.*207A>T	ENSP00000512622.1:n.*207A>T
ENST00000696428.1:c.*1089A>T	ENSP00000512623.1:n.*1089A>T
ENST00000696429.1:c.1247A>T	ENSP00000512624.1:p.Glu416Val
ENST00000696430.1:c.1247A>T	ENSP00000512625.1:p.Glu416Val
ENST00000393562.10:c.1247A>T MANE Select	ENSP00000377192.3:p.Glu416Val
ENST00000369620.6:c.1385A>T	ENSP00000358633.2:p.Glu462Val
ENST00000393562.6:c.1337A>T	ENSP00000377192.2:p.Glu446Val
ENST00000393564.6:c.1247A>T	ENSP00000377194.2:p.Glu416Val
ENST00000490651.1:n.468A>T
ENST00000621232.4:c.1247A>T	ENSP00000483686.1:p.Glu416Val
NM_000402.4:c.1337A>T	NP_000393.4:p.Glu446Val
NM_001042351.2:c.1247A>T	NP_001035810.1:p.Glu416Val
XM_005274657.2:c.1340A>T	XP_005274714.1:p.Glu447Val
XM_005274658.2:c.1250A>T	XP_005274715.1:p.Glu417Val
XM_011531132.1:c.*160A>T	XP_011529434.1:n.*160A>T
NM_001360016.2:c.1247A>T MANE Select	NP_001346945.1:p.Glu416Val
NM_001042351.3:c.1247A>T	NP_001035810.1:p.Glu416Val