Canonical Allele Identifier: CA220441

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2089
• ClinVar RCV Id: RCV000002170 ; RCV000078256
• dbSNP Id: rs121434373
• ExAC: 19:13007063 G / C
• gnomAD v2: 19-13007063-G-C
• gnomAD v3: 19-12896249-G-C
• gnomAD v4: 19-12896249-G-C
• MyVariant Identifiers: chr19:g.13007063G>C (hg19) ; chr19:g.12896249G>C (hg38)
• PubMed: PMID:8900227 ; PMID:9266361 ; PMID:10384381 ; PMID:10699052 ; PMID:10960496 ; PMID:11073722 ; PMID:18683078 ; PMID:20629163 ; PMID:23395213 ; PMID:23757202 ; PMID:25087612 ; PMID:27397597

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896249G>C , CM000681.2:g.12896249G>C	GRCh38
NC_000019.9:g.13007063G>C , CM000681.1:g.13007063G>C	GRCh37
NC_000019.8:g.12868063G>C	NCBI36
NG_009292.1:g.10090G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.680G>C MANE Select	ENSP00000222214.4:p.Arg227Pro
ENST00000222214.9:c.680G>C	ENSP00000222214.4:p.Arg227Pro
ENST00000421816.6:n.658G>C
ENST00000585420.5:n.1010G>C
ENST00000590530.5:c.*120G>C	ENSP00000468452.1:n.*120G>C
ENST00000591043.1:n.716G>C
ENST00000591470.5:c.680G>C	ENSP00000466845.1:p.Arg227Pro
NM_000159.3:c.680G>C	NP_000150.1:p.Arg227Pro
NM_013976.3:c.680G>C	NP_039663.1:p.Arg227Pro
NR_102316.1:n.843G>C
NR_102317.1:n.1061G>C
XM_006722721.2:c.680G>C	XP_006722784.1:p.Arg227Pro
XM_011527899.1:c.680G>C	XP_011526201.1:p.Arg227Pro
XM_011527900.1:c.680G>C	XP_011526202.1:p.Arg227Pro
XM_011527899.2:c.680G>C	XP_011526201.1:p.Arg227Pro
XM_011527900.2:c.680G>C	XP_011526202.1:p.Arg227Pro
XM_017026580.1:c.680G>C	XP_016882069.1:p.Arg227Pro
NM_000159.4:c.680G>C MANE Select	NP_000150.1:p.Arg227Pro
NM_013976.4:c.680G>C	NP_039663.1:p.Arg227Pro
NM_013976.5:c.680G>C	NP_039663.1:p.Arg227Pro