Canonical Allele Identifier: CA415234464

Gene: G6PD

Linked Data

• dbSNP Id: rs1557229862
• gnomAD v2: X-153761214-A-G
• MyVariant Identifiers: chrX:g.153761214A>G (hg19) ; chrX:g.154532999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532999A>G , CM000685.2:g.154532999A>G	GRCh38
NC_000023.10:g.153761214A>G , CM000685.1:g.153761214A>G	GRCh37
NC_000023.9:g.153414408A>G	NCBI36
NG_009015.2:g.19574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.994T>C	ENSP00000377194.2:p.Ser332Pro
ENST00000439227.6:c.997T>C	ENSP00000395599.2:p.Ser333Pro
ENST00000696420.1:c.994T>C	ENSP00000512615.1:p.Ser332Pro
ENST00000696421.1:c.994T>C	ENSP00000512616.1:p.Ser332Pro
ENST00000696422.1:c.857T>C
ENST00000696423.1:c.860T>C
ENST00000696424.1:c.846T>C	ENSP00000512619.1:n.846T>C
ENST00000696425.1:c.865-197T>C	ENSP00000512620.1:n.865-197T>C
ENST00000696426.1:c.*454T>C	ENSP00000512621.1:n.*454T>C
ENST00000696427.1:c.1001T>C	ENSP00000512622.1:p.Val334Ala
ENST00000696428.1:c.*836T>C	ENSP00000512623.1:n.*836T>C
ENST00000696429.1:c.994T>C	ENSP00000512624.1:p.Ser332Pro
ENST00000696430.1:c.994T>C	ENSP00000512625.1:p.Ser332Pro
ENST00000393562.10:c.994T>C MANE Select	ENSP00000377192.3:p.Ser332Pro
ENST00000369620.6:c.1132T>C	ENSP00000358633.2:p.Ser378Pro
ENST00000393562.6:c.1084T>C	ENSP00000377192.2:p.Ser362Pro
ENST00000393564.6:c.994T>C	ENSP00000377194.2:p.Ser332Pro
ENST00000439227.5:c.997T>C	ENSP00000395599.1:p.Ser333Pro
ENST00000490651.1:n.76T>C
ENST00000621232.4:c.994T>C	ENSP00000483686.1:p.Ser332Pro
NM_000402.4:c.1084T>C	NP_000393.4:p.Ser362Pro
NM_001042351.2:c.994T>C	NP_001035810.1:p.Ser332Pro
XM_005274657.2:c.1087T>C	XP_005274714.1:p.Ser363Pro
XM_005274658.2:c.997T>C	XP_005274715.1:p.Ser333Pro
XM_011531132.1:c.958-197T>C	XP_011529434.1:n.958-197T>C
NM_001360016.2:c.994T>C MANE Select	NP_001346945.1:p.Ser332Pro
NM_001042351.3:c.994T>C	NP_001035810.1:p.Ser332Pro