Canonical Allele Identifier: CA505643421
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 2800084
ClinVar RCV Id: RCV003603492
MyVariant Identifiers: chr19:g.13004301T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893487T>C , CM000681.2:g.12893487T>C GRCh38
NC_000019.9:g.13004301T>C , CM000681.1:g.13004301T>C GRCh37
NC_000019.8:g.12865301T>C NCBI36
NG_009292.1:g.7328T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.339T>C MANE Select ENSP00000222214.4:p.Tyr113=
ENST00000222214.9:c.339T>C ENSP00000222214.4:p.Tyr113=
ENST00000421816.6:n.317T>C
ENST00000585420.5:n.704T>C
ENST00000587072.1:c.387T>C ENSP00000468584.1:p.Tyr129=
ENST00000587832.5:n.396T>C
ENST00000588905.5:c.303T>C ENSP00000465770.1:p.Tyr101=
ENST00000589039.5:c.276T>C ENSP00000465618.1:p.Tyr92=
ENST00000590530.5:c.394T>C ENSP00000468452.1:p.Trp132Arg
ENST00000590627.5:n.704T>C
ENST00000591043.1:n.375T>C
ENST00000591470.5:c.339T>C ENSP00000466845.1:p.Tyr113=
NM_000159.3:c.339T>C NP_000150.1:p.Tyr113=
NM_013976.3:c.339T>C NP_039663.1:p.Tyr113=
NR_102316.1:n.502T>C
NR_102317.1:n.755T>C
XM_006722721.2:c.339T>C XP_006722784.1:p.Tyr113=
XM_011527899.1:c.339T>C XP_011526201.1:p.Tyr113=
XM_011527900.1:c.339T>C XP_011526202.1:p.Tyr113=
XM_011527899.2:c.339T>C XP_011526201.1:p.Tyr113=
XM_011527900.2:c.339T>C XP_011526202.1:p.Tyr113=
XM_017026580.1:c.339T>C XP_016882069.1:p.Tyr113=
NM_000159.4:c.339T>C MANE Select NP_000150.1:p.Tyr113=
NM_013976.4:c.339T>C NP_039663.1:p.Tyr113=
NM_013976.5:c.339T>C NP_039663.1:p.Tyr113=
Search 100 bp 5'
Search 100 bp 3'