Canonical Allele Identifier: CA9234372

Gene: GCDH

Linked Data

• dbSNP Id: rs761787080
• ExAC: 19:13004307 T / G
• gnomAD v2: 19-13004307-T-G
• gnomAD v4: 19-12893493-T-G
• MyVariant Identifiers: chr19:g.13004307T>G (hg19) ; chr19:g.12893493T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893493T>G , CM000681.2:g.12893493T>G	GRCh38
NC_000019.9:g.13004307T>G , CM000681.1:g.13004307T>G	GRCh37
NC_000019.8:g.12865307T>G	NCBI36
NG_009292.1:g.7334T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.345T>G MANE Select	ENSP00000222214.4:p.Cys115Trp
ENST00000222214.9:c.345T>G	ENSP00000222214.4:p.Cys115Trp
ENST00000421816.6:n.323T>G
ENST00000585420.5:n.710T>G
ENST00000587072.1:c.393T>G	ENSP00000468584.1:p.Cys131Trp
ENST00000587832.5:n.402T>G
ENST00000588905.5:c.309T>G	ENSP00000465770.1:p.Cys103Trp
ENST00000589039.5:c.282T>G	ENSP00000465618.1:p.Cys94Trp
ENST00000590530.5:c.400T>G	ENSP00000468452.1:p.Cys134Gly
ENST00000590627.5:n.710T>G
ENST00000591043.1:n.381T>G
ENST00000591470.5:c.345T>G	ENSP00000466845.1:p.Cys115Trp
NM_000159.3:c.345T>G	NP_000150.1:p.Cys115Trp
NM_013976.3:c.345T>G	NP_039663.1:p.Cys115Trp
NR_102316.1:n.508T>G
NR_102317.1:n.761T>G
XM_006722721.2:c.345T>G	XP_006722784.1:p.Cys115Trp
XM_011527899.1:c.345T>G	XP_011526201.1:p.Cys115Trp
XM_011527900.1:c.345T>G	XP_011526202.1:p.Cys115Trp
XM_011527899.2:c.345T>G	XP_011526201.1:p.Cys115Trp
XM_011527900.2:c.345T>G	XP_011526202.1:p.Cys115Trp
XM_017026580.1:c.345T>G	XP_016882069.1:p.Cys115Trp
NM_000159.4:c.345T>G MANE Select	NP_000150.1:p.Cys115Trp
NM_013976.4:c.345T>G	NP_039663.1:p.Cys115Trp
NM_013976.5:c.345T>G	NP_039663.1:p.Cys115Trp