Canonical Allele Identifier: CA415231765

Gene: G6PD

Linked Data

• dbSNP Id: rs1557229416
• gnomAD v2: X-153760229-G-A
• COSMIC: COSM77744
• MyVariant Identifiers: chrX:g.153760229G>A (hg19) ; chrX:g.154532014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532014G>A , CM000685.2:g.154532014G>A	GRCh38
NC_000023.10:g.153760229G>A , CM000685.1:g.153760229G>A	GRCh37
NC_000023.9:g.153413423G>A	NCBI36
NG_009015.2:g.20559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1534C>T	ENSP00000377194.2:p.Pro512Ser
ENST00000439227.6:c.1537C>T	ENSP00000395599.2:p.Pro513Ser
ENST00000696420.1:c.1457+174C>T	ENSP00000512615.1:n.1457+174C>T
ENST00000696421.1:c.1457+174C>T	ENSP00000512616.1:n.1457+174C>T
ENST00000696422.1:c.1397C>T
ENST00000696423.1:c.1400C>T
ENST00000696424.1:c.1386C>T	ENSP00000512619.1:n.1386C>T
ENST00000696425.1:c.*447C>T	ENSP00000512620.1:n.*447C>T
ENST00000696426.1:c.*994C>T	ENSP00000512621.1:n.*994C>T
ENST00000696427.1:c.*494C>T	ENSP00000512622.1:n.*494C>T
ENST00000696428.1:c.*1376C>T	ENSP00000512623.1:n.*1376C>T
ENST00000696429.1:c.1534C>T	ENSP00000512624.1:p.Pro512Ser
ENST00000696430.1:c.1534C>T	ENSP00000512625.1:p.Pro512Ser
ENST00000393562.10:c.1534C>T MANE Select	ENSP00000377192.3:p.Pro512Ser
ENST00000369620.6:c.1672C>T	ENSP00000358633.2:p.Pro558Ser
ENST00000393562.6:c.1624C>T	ENSP00000377192.2:p.Pro542Ser
ENST00000393564.6:c.1534C>T	ENSP00000377194.2:p.Pro512Ser
ENST00000621232.4:c.1534C>T	ENSP00000483686.1:p.Pro512Ser
NM_000402.4:c.1624C>T	NP_000393.4:p.Pro542Ser
NM_001042351.2:c.1534C>T	NP_001035810.1:p.Pro512Ser
XM_005274657.2:c.1627C>T	XP_005274714.1:p.Pro543Ser
XM_005274658.2:c.1537C>T	XP_005274715.1:p.Pro513Ser
NM_001360016.2:c.1534C>T MANE Select	NP_001346945.1:p.Pro512Ser
NM_001042351.3:c.1534C>T	NP_001035810.1:p.Pro512Ser