Canonical Allele Identifier: CA499889239
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs2145074091
gnomAD v4: 17-39665965-G-A
MyVariant Identifiers: chr17:g.37822218G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665965G>A , CM000679.2:g.39665965G>A GRCh38
NC_000017.10:g.37822218G>A , CM000679.1:g.37822218G>A GRCh37
NC_000017.9:g.35075744G>A NCBI36
NG_008892.1:g.5620G>A , LRG_210:g.5620G>A
NG_042278.1:g.2985G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.360G>A MANE Select ENSP00000312624.2:p.Glu120=
ENST00000309889.2:c.360G>A ENSP00000312624.2:p.Glu120=
ENST00000578283.1:c.288G>A ENSP00000462787.1:p.Glu96=
NM_003673.3:c.360G>A , LRG_210t1:c.360G>A NP_003664.1:p.Glu120=
NM_003673.4:c.360G>A MANE Select NP_003664.1:p.Glu120=
Search 100 bp 5'
Search 100 bp 3'