Canonical Allele Identifier: CA399305372
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs1380906051
gnomAD v2: 17-37822229-G-A
MyVariant Identifiers: chr17:g.37822229G>A (hg19) chr17:g.39665976G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665976G>A , CM000679.2:g.39665976G>A GRCh38
NC_000017.10:g.37822229G>A , CM000679.1:g.37822229G>A GRCh37
NC_000017.9:g.35075755G>A NCBI36
NG_008892.1:g.5631G>A , LRG_210:g.5631G>A
NG_042278.1:g.2996G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.371G>A MANE Select ENSP00000312624.2:p.Gly124Asp
ENST00000309889.2:c.371G>A ENSP00000312624.2:p.Gly124Asp
ENST00000578283.1:c.299G>A ENSP00000462787.1:p.Gly100Asp
NM_003673.3:c.371G>A , LRG_210t1:c.371G>A NP_003664.1:p.Gly124Asp
NM_003673.4:c.371G>A MANE Select NP_003664.1:p.Gly124Asp
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