Canonical Allele Identifier: CA404315788

Gene: GCDH

Linked Data

• ClinVar Variation Id: 459950
• ClinVar RCV Id: RCV000539095 ; RCV003330762
• dbSNP Id: rs771602677
• gnomAD v4: 19-12892124-C-T
• COSMIC: COSM1208001 ; COSM1208002
• MyVariant Identifiers: chr19:g.13002938C>T (hg19) ; chr19:g.12892124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12892124C>T , CM000681.2:g.12892124C>T	GRCh38
NC_000019.9:g.13002938C>T , CM000681.1:g.13002938C>T	GRCh37
NC_000019.8:g.12863938C>T	NCBI36
NG_009292.1:g.5965C>T
NG_013087.1:g.80G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.280C>T MANE Select	ENSP00000222214.4:p.Arg94Trp
ENST00000222214.9:c.280C>T	ENSP00000222214.4:p.Arg94Trp
ENST00000421816.6:n.312+150C>T
ENST00000585420.5:n.645C>T
ENST00000585760.5:n.316C>T
ENST00000587072.1:c.280C>T	ENSP00000468584.1:p.Arg94Trp
ENST00000587832.5:n.337C>T
ENST00000588905.5:c.244C>T	ENSP00000465770.1:p.Arg82Trp
ENST00000589039.5:c.271+150C>T	ENSP00000465618.1:n.271+150C>T
ENST00000590445.5:c.*157C>T	ENSP00000468125.1:n.*157C>T
ENST00000590530.5:c.271+150C>T	ENSP00000468452.1:n.271+150C>T
ENST00000590627.5:n.645C>T
ENST00000591043.1:n.316C>T
ENST00000591470.5:c.280C>T	ENSP00000466845.1:p.Arg94Trp
NM_000159.3:c.280C>T	NP_000150.1:p.Arg94Trp
NM_013976.3:c.280C>T	NP_039663.1:p.Arg94Trp
NR_102316.1:n.379+150C>T
NR_102317.1:n.696C>T
XM_006722721.2:c.280C>T	XP_006722784.1:p.Arg94Trp
XM_011527899.1:c.280C>T	XP_011526201.1:p.Arg94Trp
XM_011527900.1:c.280C>T	XP_011526202.1:p.Arg94Trp
XM_011527899.2:c.280C>T	XP_011526201.1:p.Arg94Trp
XM_011527900.2:c.280C>T	XP_011526202.1:p.Arg94Trp
XM_017026580.1:c.280C>T	XP_016882069.1:p.Arg94Trp
NM_000159.4:c.280C>T MANE Select	NP_000150.1:p.Arg94Trp
NM_013976.4:c.280C>T	NP_039663.1:p.Arg94Trp
NM_013976.5:c.280C>T	NP_039663.1:p.Arg94Trp