Canonical Allele Identifier: CA2582770894

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2766638
• ClinVar RCV Id: RCV003499297
• gnomAD v4: 19-12891538-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891538C>T , CM000681.2:g.12891538C>T	GRCh38
NC_000019.9:g.13002352C>T , CM000681.1:g.13002352C>T	GRCh37
NC_000019.8:g.12863352C>T	NCBI36
NG_009292.1:g.5379C>T
NG_013087.1:g.666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.127+16C>T MANE Select	ENSP00000222214.4:n.127+16C>T
ENST00000222214.9:c.127+16C>T	ENSP00000222214.4:n.127+16C>T
ENST00000421816.6:n.168+143C>T
ENST00000585420.5:n.200C>T
ENST00000585760.5:n.163+16C>T
ENST00000587072.1:c.127+16C>T	ENSP00000468584.1:n.127+16C>T
ENST00000587832.5:n.184+16C>T
ENST00000588905.5:c.91+143C>T	ENSP00000465770.1:n.91+143C>T
ENST00000589039.5:c.127+16C>T	ENSP00000465618.1:n.127+16C>T
ENST00000590445.5:c.143C>T	ENSP00000468125.1:p.Ser48Leu
ENST00000590530.5:c.127+16C>T	ENSP00000468452.1:n.127+16C>T
ENST00000590627.5:n.200C>T
ENST00000591043.1:n.163+16C>T
ENST00000591470.5:c.127+16C>T	ENSP00000466845.1:n.127+16C>T
NM_000159.3:c.127+16C>T	NP_000150.1:n.127+16C>T
NM_013976.3:c.127+16C>T	NP_039663.1:n.127+16C>T
NR_102316.1:n.235+16C>T
NR_102317.1:n.251C>T
XM_006722721.2:c.127+16C>T	XP_006722784.1:n.127+16C>T
XM_011527899.1:c.127+16C>T	XP_011526201.1:n.127+16C>T
XM_011527900.1:c.127+16C>T	XP_011526202.1:n.127+16C>T
XM_011527899.2:c.127+16C>T	XP_011526201.1:n.127+16C>T
XM_011527900.2:c.127+16C>T	XP_011526202.1:n.127+16C>T
XM_017026580.1:c.127+16C>T	XP_016882069.1:n.127+16C>T
NM_000159.4:c.127+16C>T MANE Select	NP_000150.1:n.127+16C>T
NM_013976.4:c.127+16C>T	NP_039663.1:n.127+16C>T
NM_013976.5:c.127+16C>T	NP_039663.1:n.127+16C>T