Canonical Allele Identifier: CA415234446

Gene: G6PD

Linked Data

• dbSNP Id: rs5030869
• gnomAD v2: X-153761205-C-A
• MyVariant Identifiers: chrX:g.153761205C>A (hg19) ; chrX:g.154532990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532990C>A , CM000685.2:g.154532990C>A	GRCh38
NC_000023.10:g.153761205C>A , CM000685.1:g.153761205C>A	GRCh37
NC_000023.9:g.153414399C>A	NCBI36
NG_009015.2:g.19583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1003G>T	ENSP00000377194.2:p.Ala335Ser
ENST00000439227.6:c.1006G>T	ENSP00000395599.2:p.Ala336Ser
ENST00000696420.1:c.1003G>T	ENSP00000512615.1:p.Ala335Ser
ENST00000696421.1:c.1003G>T	ENSP00000512616.1:p.Ala335Ser
ENST00000696422.1:c.866G>T
ENST00000696423.1:c.869G>T
ENST00000696424.1:c.855G>T	ENSP00000512619.1:n.855G>T
ENST00000696425.1:c.865-188G>T	ENSP00000512620.1:n.865-188G>T
ENST00000696426.1:c.*463G>T	ENSP00000512621.1:n.*463G>T
ENST00000696427.1:c.1010G>T	ENSP00000512622.1:p.Arg337Leu
ENST00000696428.1:c.*845G>T	ENSP00000512623.1:n.*845G>T
ENST00000696429.1:c.1003G>T	ENSP00000512624.1:p.Ala335Ser
ENST00000696430.1:c.1003G>T	ENSP00000512625.1:p.Ala335Ser
ENST00000393562.10:c.1003G>T MANE Select	ENSP00000377192.3:p.Ala335Ser
ENST00000369620.6:c.1141G>T	ENSP00000358633.2:p.Ala381Ser
ENST00000393562.6:c.1093G>T	ENSP00000377192.2:p.Ala365Ser
ENST00000393564.6:c.1003G>T	ENSP00000377194.2:p.Ala335Ser
ENST00000439227.5:c.1006G>T	ENSP00000395599.1:p.Ala336Ser
ENST00000490651.1:n.85G>T
ENST00000621232.4:c.1003G>T	ENSP00000483686.1:p.Ala335Ser
NM_000402.4:c.1093G>T	NP_000393.4:p.Ala365Ser
NM_001042351.2:c.1003G>T	NP_001035810.1:p.Ala335Ser
XM_005274657.2:c.1096G>T	XP_005274714.1:p.Ala366Ser
XM_005274658.2:c.1006G>T	XP_005274715.1:p.Ala336Ser
XM_011531132.1:c.958-188G>T	XP_011529434.1:n.958-188G>T
NM_001360016.2:c.1003G>T MANE Select	NP_001346945.1:p.Ala335Ser
NM_001042351.3:c.1003G>T	NP_001035810.1:p.Ala335Ser