Canonical Allele Identifier: CA399305897
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs2057253084
gnomAD v4: 17-39666044-A-G
MyVariant Identifiers: chr17:g.37822297A>G (hg19) chr17:g.39666044A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666044A>G , CM000679.2:g.39666044A>G GRCh38
NC_000017.10:g.37822297A>G , CM000679.1:g.37822297A>G GRCh37
NC_000017.9:g.35075823A>G NCBI36
NG_008892.1:g.5699A>G , LRG_210:g.5699A>G
NG_042278.1:g.3064A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.439A>G MANE Select ENSP00000312624.2:p.Ser147Gly
ENST00000309889.2:c.439A>G ENSP00000312624.2:p.Ser147Gly
ENST00000578283.1:c.367A>G ENSP00000462787.1:p.Ser123Gly
NM_003673.3:c.439A>G , LRG_210t1:c.439A>G NP_003664.1:p.Ser147Gly
NM_003673.4:c.439A>G MANE Select NP_003664.1:p.Ser147Gly
Search 100 bp 5'
Search 100 bp 3'