Canonical Allele Identifier: CA252099

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2088
• ClinVar RCV Id: RCV000002169 ; RCV000224327 ; RCV002512671
• dbSNP Id: rs121434372
• ExAC: 19:13008632 G / A
• gnomAD v2: 19-13008632-G-A
• gnomAD v3: 19-12897818-G-A
• gnomAD v4: 19-12897818-G-A
• MyVariant Identifiers: chr19:g.13008632G>A (hg19) ; chr19:g.12897818G>A (hg38)
• PubMed: PMID:8900227 ; PMID:9711871 ; PMID:9881681 ; PMID:10960496 ; PMID:15505393 ; PMID:21912879

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897818G>A , CM000681.2:g.12897818G>A	GRCh38
NC_000019.9:g.13008632G>A , CM000681.1:g.13008632G>A	GRCh37
NC_000019.8:g.12869632G>A	NCBI36
NG_009292.1:g.11659G>A
NG_033049.1:g.26455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1198G>A MANE Select	ENSP00000222214.4:p.Val400Met
ENST00000222214.9:c.1198G>A	ENSP00000222214.4:p.Val400Met
ENST00000585420.5:n.1528G>A
ENST00000590472.5:c.242G>A
ENST00000590530.5:c.*638G>A	ENSP00000468452.1:n.*638G>A
ENST00000591043.1:n.1508G>A
ENST00000591050.1:c.165G>A
ENST00000591470.5:c.1198G>A	ENSP00000466845.1:p.Val400Met
NM_000159.3:c.1198G>A	NP_000150.1:p.Val400Met
NM_013976.3:c.1198G>A	NP_039663.1:p.Val400Met
NR_102316.1:n.1361G>A
NR_102317.1:n.1579G>A
XM_006722721.2:c.1198G>A	XP_006722784.1:p.Val400Met
XM_011527899.1:c.1198G>A	XP_011526201.1:p.Val400Met
XM_011527900.1:c.1198G>A	XP_011526202.1:p.Val400Met
XM_011527899.2:c.1198G>A	XP_011526201.1:p.Val400Met
XM_011527900.2:c.1198G>A	XP_011526202.1:p.Val400Met
XM_017026580.1:c.1198G>A	XP_016882069.1:p.Val400Met
NM_000159.4:c.1198G>A MANE Select	NP_000150.1:p.Val400Met
NM_013976.4:c.1198G>A	NP_039663.1:p.Val400Met
NM_013976.5:c.1198G>A	NP_039663.1:p.Val400Met