Canonical Allele Identifier: CA415234152

Gene: G6PD

Linked Data

• gnomAD v4: X-154532719-C-T
• MyVariant Identifiers: chrX:g.153760934C>T (hg19) ; chrX:g.154532719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532719C>T , CM000685.2:g.154532719C>T	GRCh38
NC_000023.10:g.153760934C>T , CM000685.1:g.153760934C>T	GRCh37
NC_000023.9:g.153414128C>T	NCBI36
NG_009015.2:g.19854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1135G>A	ENSP00000377194.2:p.Asp379Asn
ENST00000439227.6:c.1138G>A	ENSP00000395599.2:p.Asp380Asn
ENST00000696420.1:c.1135G>A	ENSP00000512615.1:p.Asp379Asn
ENST00000696421.1:c.1135G>A	ENSP00000512616.1:p.Asp379Asn
ENST00000696422.1:c.998G>A
ENST00000696423.1:c.1001G>A
ENST00000696424.1:c.987G>A	ENSP00000512619.1:n.987G>A
ENST00000696425.1:c.*48G>A	ENSP00000512620.1:n.*48G>A
ENST00000696426.1:c.*595G>A	ENSP00000512621.1:n.*595G>A
ENST00000696427.1:c.*95G>A	ENSP00000512622.1:n.*95G>A
ENST00000696428.1:c.*977G>A	ENSP00000512623.1:n.*977G>A
ENST00000696429.1:c.1135G>A	ENSP00000512624.1:p.Asp379Asn
ENST00000696430.1:c.1135G>A	ENSP00000512625.1:p.Asp379Asn
ENST00000393562.10:c.1135G>A MANE Select	ENSP00000377192.3:p.Asp379Asn
ENST00000369620.6:c.1273G>A	ENSP00000358633.2:p.Asp425Asn
ENST00000393562.6:c.1225G>A	ENSP00000377192.2:p.Asp409Asn
ENST00000393564.6:c.1135G>A	ENSP00000377194.2:p.Asp379Asn
ENST00000490651.1:n.356G>A
ENST00000621232.4:c.1135G>A	ENSP00000483686.1:p.Asp379Asn
NM_000402.4:c.1225G>A	NP_000393.4:p.Asp409Asn
NM_001042351.2:c.1135G>A	NP_001035810.1:p.Asp379Asn
XM_005274657.2:c.1228G>A	XP_005274714.1:p.Asp410Asn
XM_005274658.2:c.1138G>A	XP_005274715.1:p.Asp380Asn
XM_011531132.1:c.*48G>A	XP_011529434.1:n.*48G>A
NM_001360016.2:c.1135G>A MANE Select	NP_001346945.1:p.Asp379Asn
NM_001042351.3:c.1135G>A	NP_001035810.1:p.Asp379Asn