Canonical Allele Identifier: CA415234376

Gene: G6PD

Linked Data

• gnomAD v4: X-154532956-T-C
• MyVariant Identifiers: chrX:g.153761171T>C (hg19) ; chrX:g.154532956T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532956T>C , CM000685.2:g.154532956T>C	GRCh38
NC_000023.10:g.153761171T>C , CM000685.1:g.153761171T>C	GRCh37
NC_000023.9:g.153414365T>C	NCBI36
NG_009015.2:g.19617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1037A>G	ENSP00000377194.2:p.Asn346Ser
ENST00000439227.6:c.1040A>G	ENSP00000395599.2:p.Asn347Ser
ENST00000696420.1:c.1037A>G	ENSP00000512615.1:p.Asn346Ser
ENST00000696421.1:c.1037A>G	ENSP00000512616.1:p.Asn346Ser
ENST00000696422.1:c.900A>G
ENST00000696423.1:c.903A>G
ENST00000696424.1:c.889A>G	ENSP00000512619.1:n.889A>G
ENST00000696425.1:c.865-154A>G	ENSP00000512620.1:n.865-154A>G
ENST00000696426.1:c.*497A>G	ENSP00000512621.1:n.*497A>G
ENST00000696427.1:c.1044A>G	ENSP00000512622.1:p.Glu348=
ENST00000696428.1:c.*879A>G	ENSP00000512623.1:n.*879A>G
ENST00000696429.1:c.1037A>G	ENSP00000512624.1:p.Asn346Ser
ENST00000696430.1:c.1037A>G	ENSP00000512625.1:p.Asn346Ser
ENST00000393562.10:c.1037A>G MANE Select	ENSP00000377192.3:p.Asn346Ser
ENST00000369620.6:c.1175A>G	ENSP00000358633.2:p.Asn392Ser
ENST00000393562.6:c.1127A>G	ENSP00000377192.2:p.Asn376Ser
ENST00000393564.6:c.1037A>G	ENSP00000377194.2:p.Asn346Ser
ENST00000490651.1:n.119A>G
ENST00000621232.4:c.1037A>G	ENSP00000483686.1:p.Asn346Ser
NM_000402.4:c.1127A>G	NP_000393.4:p.Asn376Ser
NM_001042351.2:c.1037A>G	NP_001035810.1:p.Asn346Ser
XM_005274657.2:c.1130A>G	XP_005274714.1:p.Asn377Ser
XM_005274658.2:c.1040A>G	XP_005274715.1:p.Asn347Ser
XM_011531132.1:c.958-154A>G	XP_011529434.1:n.958-154A>G
NM_001360016.2:c.1037A>G MANE Select	NP_001346945.1:p.Asn346Ser
NM_001042351.3:c.1037A>G	NP_001035810.1:p.Asn346Ser