Canonical Allele Identifier: CA499889233
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs1314662604
gnomAD v2: 17-37822215-G-A
gnomAD v4: 17-39665962-G-A
MyVariant Identifiers: chr17:g.37822215G>A (hg19) chr17:g.39665962G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665962G>A , CM000679.2:g.39665962G>A GRCh38
NC_000017.10:g.37822215G>A , CM000679.1:g.37822215G>A GRCh37
NC_000017.9:g.35075741G>A NCBI36
NG_008892.1:g.5617G>A , LRG_210:g.5617G>A
NG_042278.1:g.2982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.357G>A MANE Select ENSP00000312624.2:p.Leu119=
ENST00000309889.2:c.357G>A ENSP00000312624.2:p.Leu119=
ENST00000578283.1:c.285G>A ENSP00000462787.1:p.Leu95=
NM_003673.3:c.357G>A , LRG_210t1:c.357G>A NP_003664.1:p.Leu119=
NM_003673.4:c.357G>A MANE Select NP_003664.1:p.Leu119=
Search 100 bp 5'
Search 100 bp 3'