Canonical Allele Identifier: CA499889167
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs1323721250
gnomAD v2: 17-37822149-C-T
gnomAD v4: 17-39665896-C-T
MyVariant Identifiers: chr17:g.37822149C>T (hg19) chr17:g.39665896C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665896C>T , CM000679.2:g.39665896C>T GRCh38
NC_000017.10:g.37822149C>T , CM000679.1:g.37822149C>T GRCh37
NC_000017.9:g.35075675C>T NCBI36
NG_008892.1:g.5551C>T , LRG_210:g.5551C>T
NG_042278.1:g.2916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.291C>T MANE Select ENSP00000312624.2:p.Ala97=
ENST00000309889.2:c.291C>T ENSP00000312624.2:p.Ala97=
ENST00000578283.1:c.219C>T ENSP00000462787.1:p.Ala73=
NM_003673.3:c.291C>T , LRG_210t1:c.291C>T NP_003664.1:p.Ala97=
NM_003673.4:c.291C>T MANE Select NP_003664.1:p.Ala97=
Search 100 bp 5'
Search 100 bp 3'