Canonical Allele Identifier: CA252094
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 2081
ClinVar RCV Id: RCV000002162 RCV000724276
dbSNP Id: rs121434366
MyVariant Identifiers: chr19:g.13007754T>C (hg19) chr19:g.12896940T>C (hg38)
PubMed: PMID:8541831 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896940T>C , CM000681.2:g.12896940T>C GRCh38
NC_000019.9:g.13007754T>C , CM000681.1:g.13007754T>C GRCh37
NC_000019.8:g.12868754T>C NCBI36
NG_009292.1:g.10781T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.883T>C MANE Select ENSP00000222214.4:p.Tyr295His
ENST00000222214.9:c.883T>C ENSP00000222214.4:p.Tyr295His
ENST00000421816.6:n.861T>C
ENST00000585420.5:n.1213T>C
ENST00000590530.5:c.*323T>C ENSP00000468452.1:n.*323T>C
ENST00000591043.1:n.919T>C
ENST00000591470.5:c.883T>C ENSP00000466845.1:p.Tyr295His
NM_000159.3:c.883T>C NP_000150.1:p.Tyr295His
NM_013976.3:c.883T>C NP_039663.1:p.Tyr295His
NR_102316.1:n.1046T>C
NR_102317.1:n.1264T>C
XM_006722721.2:c.883T>C XP_006722784.1:p.Tyr295His
XM_011527899.1:c.883T>C XP_011526201.1:p.Tyr295His
XM_011527900.1:c.883T>C XP_011526202.1:p.Tyr295His
XM_011527899.2:c.883T>C XP_011526201.1:p.Tyr295His
XM_011527900.2:c.883T>C XP_011526202.1:p.Tyr295His
XM_017026580.1:c.883T>C XP_016882069.1:p.Tyr295His
NM_000159.4:c.883T>C MANE Select NP_000150.1:p.Tyr295His
NM_013976.4:c.883T>C NP_039663.1:p.Tyr295His
NM_013976.5:c.883T>C NP_039663.1:p.Tyr295His
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