Canonical Allele Identifier: CA399306011
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs149585781
gnomAD v4: 17-39666063-G-C
MyVariant Identifiers: chr17:g.37822316G>C (hg19) chr17:g.39666063G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666063G>C , CM000679.2:g.39666063G>C GRCh38
NC_000017.10:g.37822316G>C , CM000679.1:g.37822316G>C GRCh37
NC_000017.9:g.35075842G>C NCBI36
NG_008892.1:g.5718G>C , LRG_210:g.5718G>C
NG_042278.1:g.3083G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309889.3:c.458G>C MANE Select ENSP00000312624.2:p.Arg153Pro
ENST00000309889.2:c.458G>C ENSP00000312624.2:p.Arg153Pro
ENST00000578283.1:c.386G>C ENSP00000462787.1:p.Arg129Pro
NM_003673.3:c.458G>C , LRG_210t1:c.458G>C NP_003664.1:p.Arg153Pro
NM_003673.4:c.458G>C MANE Select NP_003664.1:p.Arg153Pro
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