Canonical Allele Identifier: CA9234221

Gene: GCDH

Linked Data

• ClinVar Variation Id: 255394
• ClinVar RCV Id: RCV001527145 ; RCV000252203 ; RCV001651110
• dbSNP Id: rs3745647
• ExAC: 19:13002384 T / C
• gnomAD v2: 19-13002384-T-C
• gnomAD v3: 19-12891570-T-C
• gnomAD v4: 19-12891570-T-C
• MyVariant Identifiers: chr19:g.13002384T>C (hg19) ; chr19:g.12891570T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891570T>C , CM000681.2:g.12891570T>C	GRCh38
NC_000019.9:g.13002384T>C , CM000681.1:g.13002384T>C	GRCh37
NC_000019.8:g.12863384T>C	NCBI36
NG_009292.1:g.5411T>C
NG_013087.1:g.634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.127+48T>C MANE Select	ENSP00000222214.4:n.127+48T>C
ENST00000222214.9:c.127+48T>C	ENSP00000222214.4:n.127+48T>C
ENST00000421816.6:n.168+175T>C
ENST00000585420.5:n.232T>C
ENST00000585760.5:n.163+48T>C
ENST00000587072.1:c.127+48T>C	ENSP00000468584.1:n.127+48T>C
ENST00000587832.5:n.184+48T>C
ENST00000588905.5:c.91+175T>C	ENSP00000465770.1:n.91+175T>C
ENST00000589039.5:c.127+48T>C	ENSP00000465618.1:n.127+48T>C
ENST00000590445.5:c.175T>C	ENSP00000468125.1:p.Ser59Pro
ENST00000590530.5:c.127+48T>C	ENSP00000468452.1:n.127+48T>C
ENST00000590627.5:n.232T>C
ENST00000591043.1:n.163+48T>C
ENST00000591470.5:c.127+48T>C	ENSP00000466845.1:n.127+48T>C
NM_000159.3:c.127+48T>C	NP_000150.1:n.127+48T>C
NM_013976.3:c.127+48T>C	NP_039663.1:n.127+48T>C
NR_102316.1:n.235+48T>C
NR_102317.1:n.283T>C
XM_006722721.2:c.127+48T>C	XP_006722784.1:n.127+48T>C
XM_011527899.1:c.127+48T>C	XP_011526201.1:n.127+48T>C
XM_011527900.1:c.127+48T>C	XP_011526202.1:n.127+48T>C
XM_011527899.2:c.127+48T>C	XP_011526201.1:n.127+48T>C
XM_011527900.2:c.127+48T>C	XP_011526202.1:n.127+48T>C
XM_017026580.1:c.127+48T>C	XP_016882069.1:n.127+48T>C
NM_000159.4:c.127+48T>C MANE Select	NP_000150.1:n.127+48T>C
NM_013976.4:c.127+48T>C	NP_039663.1:n.127+48T>C
NM_013976.5:c.127+48T>C	NP_039663.1:n.127+48T>C