Canonical Allele Identifier: CA305500166

Gene: GCDH

Linked Data

• dbSNP Id: rs539354912
• gnomAD v2: 19-13002357-C-A
• gnomAD v3: 19-12891543-C-A
• gnomAD v4: 19-12891543-C-A
• MyVariant Identifiers: chr19:g.13002357C>A (hg19) ; chr19:g.12891543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891543C>A , CM000681.2:g.12891543C>A	GRCh38
NC_000019.9:g.13002357C>A , CM000681.1:g.13002357C>A	GRCh37
NC_000019.8:g.12863357C>A	NCBI36
NG_009292.1:g.5384C>A
NG_013087.1:g.661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.127+21C>A MANE Select	ENSP00000222214.4:n.127+21C>A
ENST00000222214.9:c.127+21C>A	ENSP00000222214.4:n.127+21C>A
ENST00000421816.6:n.168+148C>A
ENST00000585420.5:n.205C>A
ENST00000585760.5:n.163+21C>A
ENST00000587072.1:c.127+21C>A	ENSP00000468584.1:n.127+21C>A
ENST00000587832.5:n.184+21C>A
ENST00000588905.5:c.91+148C>A	ENSP00000465770.1:n.91+148C>A
ENST00000589039.5:c.127+21C>A	ENSP00000465618.1:n.127+21C>A
ENST00000590445.5:c.148C>A	ENSP00000468125.1:p.Arg50Ser
ENST00000590530.5:c.127+21C>A	ENSP00000468452.1:n.127+21C>A
ENST00000590627.5:n.205C>A
ENST00000591043.1:n.163+21C>A
ENST00000591470.5:c.127+21C>A	ENSP00000466845.1:n.127+21C>A
NM_000159.3:c.127+21C>A	NP_000150.1:n.127+21C>A
NM_013976.3:c.127+21C>A	NP_039663.1:n.127+21C>A
NR_102316.1:n.235+21C>A
NR_102317.1:n.256C>A
XM_006722721.2:c.127+21C>A	XP_006722784.1:n.127+21C>A
XM_011527899.1:c.127+21C>A	XP_011526201.1:n.127+21C>A
XM_011527900.1:c.127+21C>A	XP_011526202.1:n.127+21C>A
XM_011527899.2:c.127+21C>A	XP_011526201.1:n.127+21C>A
XM_011527900.2:c.127+21C>A	XP_011526202.1:n.127+21C>A
XM_017026580.1:c.127+21C>A	XP_016882069.1:n.127+21C>A
NM_000159.4:c.127+21C>A MANE Select	NP_000150.1:n.127+21C>A
NM_013976.4:c.127+21C>A	NP_039663.1:n.127+21C>A
NM_013976.5:c.127+21C>A	NP_039663.1:n.127+21C>A