Canonical Allele Identifier: CA2637632256
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs2145072691
gnomAD v4: 17-39665539-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665539G>T , CM000679.2:g.39665539G>T GRCh38
NC_000017.10:g.37821792G>T , CM000679.1:g.37821792G>T GRCh37
NC_000017.9:g.35075318G>T NCBI36
NG_008892.1:g.5194G>T , LRG_210:g.5194G>T
NG_042278.1:g.2559G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.110+70G>T MANE Select ENSP00000312624.2:n.110+70G>T
ENST00000309889.2:c.110+70G>T ENSP00000312624.2:n.110+70G>T
ENST00000578283.1:c.110+70G>T ENSP00000462787.1:n.110+70G>T
NM_003673.3:c.110+70G>T , LRG_210t1:c.110+70G>T NP_003664.1:n.110+70G>T
NM_003673.4:c.110+70G>T MANE Select NP_003664.1:n.110+70G>T
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