Canonical Allele Identifier: CA404315091

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13002711T>A (hg19) ; chr19:g.12891897T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891897T>A , CM000681.2:g.12891897T>A	GRCh38
NC_000019.9:g.13002711T>A , CM000681.1:g.13002711T>A	GRCh37
NC_000019.8:g.12863711T>A	NCBI36
NG_009292.1:g.5738T>A
NG_013087.1:g.307A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.194T>A MANE Select	ENSP00000222214.4:p.Ile65Asn
ENST00000222214.9:c.194T>A	ENSP00000222214.4:p.Ile65Asn
ENST00000421816.6:n.235T>A
ENST00000585420.5:n.559T>A
ENST00000585760.5:n.230T>A
ENST00000587072.1:c.194T>A	ENSP00000468584.1:p.Ile65Asn
ENST00000587832.5:n.251T>A
ENST00000588905.5:c.158T>A	ENSP00000465770.1:p.Ile53Asn
ENST00000589039.5:c.194T>A	ENSP00000465618.1:p.Ile65Asn
ENST00000590445.5:c.*71T>A	ENSP00000468125.1:n.*71T>A
ENST00000590530.5:c.194T>A	ENSP00000468452.1:p.Ile65Asn
ENST00000590627.5:n.559T>A
ENST00000591043.1:n.230T>A
ENST00000591470.5:c.194T>A	ENSP00000466845.1:p.Ile65Asn
NM_000159.3:c.194T>A	NP_000150.1:p.Ile65Asn
NM_013976.3:c.194T>A	NP_039663.1:p.Ile65Asn
NR_102316.1:n.302T>A
NR_102317.1:n.610T>A
XM_006722721.2:c.194T>A	XP_006722784.1:p.Ile65Asn
XM_011527899.1:c.194T>A	XP_011526201.1:p.Ile65Asn
XM_011527900.1:c.194T>A	XP_011526202.1:p.Ile65Asn
XM_011527899.2:c.194T>A	XP_011526201.1:p.Ile65Asn
XM_011527900.2:c.194T>A	XP_011526202.1:p.Ile65Asn
XM_017026580.1:c.194T>A	XP_016882069.1:p.Ile65Asn
NM_000159.4:c.194T>A MANE Select	NP_000150.1:p.Ile65Asn
NM_013976.4:c.194T>A	NP_039663.1:p.Ile65Asn
NM_013976.5:c.194T>A	NP_039663.1:p.Ile65Asn