Canonical Allele Identifier: CA399304427
Gene: TCAP HGNC NCBI

Linked Data

gnomAD v4: 17-39665843-G-C
MyVariant Identifiers: chr17:g.37822096G>C (hg19) chr17:g.39665843G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665843G>C , CM000679.2:g.39665843G>C GRCh38
NC_000017.10:g.37822096G>C , CM000679.1:g.37822096G>C GRCh37
NC_000017.9:g.35075622G>C NCBI36
NG_008892.1:g.5498G>C , LRG_210:g.5498G>C
NG_042278.1:g.2863G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.238G>C MANE Select ENSP00000312624.2:p.Glu80Gln
ENST00000309889.2:c.238G>C ENSP00000312624.2:p.Glu80Gln
ENST00000578283.1:c.175-9G>C ENSP00000462787.1:n.175-9G>C
NM_003673.3:c.238G>C , LRG_210t1:c.238G>C NP_003664.1:p.Glu80Gln
NM_003673.4:c.238G>C MANE Select NP_003664.1:p.Glu80Gln
Search 100 bp 5'
Search 100 bp 3'