Canonical Allele Identifier: CA308843

Gene: TCAP

Linked Data

• ClinVar Variation Id: 202111
• ClinVar RCV Id: RCV000183929 ; RCV000619320 ; RCV000691909 ; RCV001253488 ; RCV001196084 ; RCV002492831
• dbSNP Id: rs753744791
• ExAC: 17:37822081 G / A
• gnomAD v2: 17-37822081-G-A
• gnomAD v3: 17-39665828-G-A
• gnomAD v4: 17-39665828-G-A
• MyVariant Identifiers: chr17:g.37822081G>A (hg19) ; chr17:g.39665828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665828G>A , CM000679.2:g.39665828G>A	GRCh38
NC_000017.10:g.37822081G>A , CM000679.1:g.37822081G>A	GRCh37
NC_000017.9:g.35075607G>A	NCBI36
NG_008892.1:g.5483G>A , LRG_210:g.5483G>A
NG_042278.1:g.2848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.223G>A MANE Select	ENSP00000312624.2:p.Gly75Ser
ENST00000309889.2:c.223G>A	ENSP00000312624.2:p.Gly75Ser
ENST00000578283.1:c.175-24G>A	ENSP00000462787.1:n.175-24G>A
NM_003673.3:c.223G>A , LRG_210t1:c.223G>A	NP_003664.1:p.Gly75Ser
NM_003673.4:c.223G>A MANE Select	NP_003664.1:p.Gly75Ser