Canonical Allele Identifier: CA338567904
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 618055
ClinVar RCV Id: RCV000756004
dbSNP Id: rs1175956798
gnomAD v2: 1-15772204-T-C
gnomAD v3: 1-15445709-T-C
gnomAD v4: 1-15445709-T-C
MyVariant Identifiers: chr1:g.15772204T>C (hg19) chr1:g.15445709T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445709T>C , CM000663.2:g.15445709T>C GRCh38
NC_000001.10:g.15772204T>C , CM000663.1:g.15772204T>C GRCh37
NC_000001.9:g.15644791T>C NCBI36
NG_009253.1:g.12267T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.752T>C MANE Select ENSP00000365116.4:p.Val251Ala
ENST00000375943.6:c.*206T>C ENSP00000365110.2:n.*206T>C
ENST00000375949.4:c.752T>C ENSP00000365116.4:p.Val251Ala
ENST00000483406.1:n.516T>C
NM_007272.2:c.752T>C NP_009203.2:p.Val251Ala
XM_011540550.1:c.606T>C XP_011538852.1:p.Ser202=
NM_007272.3:c.752T>C MANE Select NP_009203.2:p.Val251Ala
Search 100 bp 5'
Search 100 bp 3'