Canonical Allele Identifier: CA9234231

Gene: GCDH

Linked Data

• dbSNP Id: rs753621195
• ExAC: 19:13002409 C / T
• gnomAD v2: 19-13002409-C-T
• MyVariant Identifiers: chr19:g.13002409C>T (hg19) ; chr19:g.12891595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891595C>T , CM000681.2:g.12891595C>T	GRCh38
NC_000019.9:g.13002409C>T , CM000681.1:g.13002409C>T	GRCh37
NC_000019.8:g.12863409C>T	NCBI36
NG_009292.1:g.5436C>T
NG_013087.1:g.609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.127+73C>T MANE Select	ENSP00000222214.4:n.127+73C>T
ENST00000222214.9:c.127+73C>T	ENSP00000222214.4:n.127+73C>T
ENST00000421816.6:n.168+200C>T
ENST00000585420.5:n.257C>T
ENST00000585760.5:n.163+73C>T
ENST00000587072.1:c.127+73C>T	ENSP00000468584.1:n.127+73C>T
ENST00000587832.5:n.184+73C>T
ENST00000588905.5:c.91+200C>T	ENSP00000465770.1:n.91+200C>T
ENST00000589039.5:c.127+73C>T	ENSP00000465618.1:n.127+73C>T
ENST00000590445.5:c.200C>T	ENSP00000468125.1:p.Ser67Phe
ENST00000590530.5:c.127+73C>T	ENSP00000468452.1:n.127+73C>T
ENST00000590627.5:n.257C>T
ENST00000591043.1:n.163+73C>T
ENST00000591470.5:c.127+73C>T	ENSP00000466845.1:n.127+73C>T
NM_000159.3:c.127+73C>T	NP_000150.1:n.127+73C>T
NM_013976.3:c.127+73C>T	NP_039663.1:n.127+73C>T
NR_102316.1:n.235+73C>T
NR_102317.1:n.308C>T
XM_006722721.2:c.127+73C>T	XP_006722784.1:n.127+73C>T
XM_011527899.1:c.127+73C>T	XP_011526201.1:n.127+73C>T
XM_011527900.1:c.127+73C>T	XP_011526202.1:n.127+73C>T
XM_011527899.2:c.127+73C>T	XP_011526201.1:n.127+73C>T
XM_011527900.2:c.127+73C>T	XP_011526202.1:n.127+73C>T
XM_017026580.1:c.127+73C>T	XP_016882069.1:n.127+73C>T
NM_000159.4:c.127+73C>T MANE Select	NP_000150.1:n.127+73C>T
NM_013976.4:c.127+73C>T	NP_039663.1:n.127+73C>T
NM_013976.5:c.127+73C>T	NP_039663.1:n.127+73C>T