Canonical Allele Identifier: CA134926

Gene: TCAP

Linked Data

• ClinVar Variation Id: 44710
• ClinVar RCV Id: RCV000170302 ; RCV000037797 ; RCV000765349 ; RCV000766898 ; RCV001087199 ; RCV002336134
• dbSNP Id: rs149585781
• ExAC: 17:37822316 G / A
• gnomAD v2: 17-37822316-G-A
• gnomAD v3: 17-39666063-G-A
• gnomAD v4: 17-39666063-G-A
• MyVariant Identifiers: chr17:g.37822316G>A (hg19) ; chr17:g.39666063G>A (hg38)
• PubMed: PMID:15582318

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666063G>A , CM000679.2:g.39666063G>A	GRCh38
NC_000017.10:g.37822316G>A , CM000679.1:g.37822316G>A	GRCh37
NC_000017.9:g.35075842G>A	NCBI36
NG_008892.1:g.5718G>A , LRG_210:g.5718G>A
NG_042278.1:g.3083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.458G>A MANE Select	ENSP00000312624.2:p.Arg153His
ENST00000309889.2:c.458G>A	ENSP00000312624.2:p.Arg153His
ENST00000578283.1:c.386G>A	ENSP00000462787.1:p.Arg129His
NM_003673.3:c.458G>A , LRG_210t1:c.458G>A	NP_003664.1:p.Arg153His
NM_003673.4:c.458G>A MANE Select	NP_003664.1:p.Arg153His