Canonical Allele Identifier: CA305500351

Gene: GCDH

Linked Data

• dbSNP Id: rs79142650
• gnomAD v2: 19-13004309-C-G
• MyVariant Identifiers: chr19:g.13004309C>G (hg19) ; chr19:g.12893495C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893495C>G , CM000681.2:g.12893495C>G	GRCh38
NC_000019.9:g.13004309C>G , CM000681.1:g.13004309C>G	GRCh37
NC_000019.8:g.12865309C>G	NCBI36
NG_009292.1:g.7336C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.347C>G MANE Select	ENSP00000222214.4:p.Ala116Gly
ENST00000222214.9:c.347C>G	ENSP00000222214.4:p.Ala116Gly
ENST00000421816.6:n.325C>G
ENST00000585420.5:n.712C>G
ENST00000587832.5:n.404C>G
ENST00000588905.5:c.311C>G	ENSP00000465770.1:p.Ala104Gly
ENST00000589039.5:c.284C>G	ENSP00000465618.1:p.Ala95Gly
ENST00000590530.5:c.402C>G	ENSP00000468452.1:p.Cys134Trp
ENST00000590627.5:n.712C>G
ENST00000591043.1:n.383C>G
ENST00000591470.5:c.347C>G	ENSP00000466845.1:p.Ala116Gly
NM_000159.3:c.347C>G	NP_000150.1:p.Ala116Gly
NM_013976.3:c.347C>G	NP_039663.1:p.Ala116Gly
NR_102316.1:n.510C>G
NR_102317.1:n.763C>G
XM_006722721.2:c.347C>G	XP_006722784.1:p.Ala116Gly
XM_011527899.1:c.347C>G	XP_011526201.1:p.Ala116Gly
XM_011527900.1:c.347C>G	XP_011526202.1:p.Ala116Gly
XM_011527899.2:c.347C>G	XP_011526201.1:p.Ala116Gly
XM_011527900.2:c.347C>G	XP_011526202.1:p.Ala116Gly
XM_017026580.1:c.347C>G	XP_016882069.1:p.Ala116Gly
NM_000159.4:c.347C>G MANE Select	NP_000150.1:p.Ala116Gly
NM_013976.4:c.347C>G	NP_039663.1:p.Ala116Gly
NM_013976.5:c.347C>G	NP_039663.1:p.Ala116Gly