Canonical Allele Identifier: CA305500642

Gene: GCDH

Linked Data

• dbSNP Id: rs868547125
• MyVariant Identifiers: chr19:g.13006889T>A (hg19) ; chr19:g.12896075T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896075T>A , CM000681.2:g.12896075T>A	GRCh38
NC_000019.9:g.13006889T>A , CM000681.1:g.13006889T>A	GRCh37
NC_000019.8:g.12867889T>A	NCBI36
NG_009292.1:g.9916T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.589T>A MANE Select	ENSP00000222214.4:p.Tyr197Asn
ENST00000222214.9:c.589T>A	ENSP00000222214.4:p.Tyr197Asn
ENST00000421816.6:n.567T>A
ENST00000585420.5:n.954T>A
ENST00000590530.5:c.*29T>A	ENSP00000468452.1:n.*29T>A
ENST00000591043.1:n.625T>A
ENST00000591470.5:c.589T>A	ENSP00000466845.1:p.Tyr197Asn
NM_000159.3:c.589T>A	NP_000150.1:p.Tyr197Asn
NM_013976.3:c.589T>A	NP_039663.1:p.Tyr197Asn
NR_102316.1:n.752T>A
NR_102317.1:n.1005T>A
XM_006722721.2:c.589T>A	XP_006722784.1:p.Tyr197Asn
XM_011527899.1:c.589T>A	XP_011526201.1:p.Tyr197Asn
XM_011527900.1:c.589T>A	XP_011526202.1:p.Tyr197Asn
XM_011527899.2:c.589T>A	XP_011526201.1:p.Tyr197Asn
XM_011527900.2:c.589T>A	XP_011526202.1:p.Tyr197Asn
XM_017026580.1:c.589T>A	XP_016882069.1:p.Tyr197Asn
NM_000159.4:c.589T>A MANE Select	NP_000150.1:p.Tyr197Asn
NM_013976.4:c.589T>A	NP_039663.1:p.Tyr197Asn
NM_013976.5:c.589T>A	NP_039663.1:p.Tyr197Asn