Canonical Allele Identifier: CA8532898
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 568632
ClinVar RCV Id: RCV000689054 RCV001089617
dbSNP Id: rs576098128
ExAC: 17:37822175 G / A
gnomAD v2: 17-37822175-G-A
gnomAD v3: 17-39665922-G-A
gnomAD v4: 17-39665922-G-A
MyVariant Identifiers: chr17:g.37822175G>A (hg19) chr17:g.39665922G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665922G>A , CM000679.2:g.39665922G>A GRCh38
NC_000017.10:g.37822175G>A , CM000679.1:g.37822175G>A GRCh37
NC_000017.9:g.35075701G>A NCBI36
NG_008892.1:g.5577G>A , LRG_210:g.5577G>A
NG_042278.1:g.2942G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.317G>A MANE Select ENSP00000312624.2:p.Arg106His
ENST00000309889.2:c.317G>A ENSP00000312624.2:p.Arg106His
ENST00000578283.1:c.245G>A ENSP00000462787.1:p.Arg82His
NM_003673.3:c.317G>A , LRG_210t1:c.317G>A NP_003664.1:p.Arg106His
NM_003673.4:c.317G>A MANE Select NP_003664.1:p.Arg106His
Search 100 bp 5'
Search 100 bp 3'