Canonical Allele Identifier: CA338565020
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 3226053
ClinVar RCV Id: RCV004517323
dbSNP Id: rs1363072917
MyVariant Identifiers: chr1:g.15767025C>T (hg19) chr1:g.15440529C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15440529C>T , CM000663.2:g.15440529C>T GRCh38
NC_000001.10:g.15767025C>T , CM000663.1:g.15767025C>T GRCh37
NC_000001.9:g.15639612C>T NCBI36
NG_009253.1:g.7088C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.169C>T MANE Select ENSP00000365116.4:p.His57Tyr
ENST00000375943.6:c.41-1918C>T ENSP00000365110.2:n.41-1918C>T
ENST00000375949.4:c.169C>T ENSP00000365116.4:p.His57Tyr
ENST00000476813.5:n.53-1918C>T
ENST00000483406.1:n.79C>T
NM_007272.2:c.169C>T NP_009203.2:p.His57Tyr
XM_011540550.1:c.169C>T XP_011538852.1:p.His57Tyr
NM_007272.3:c.169C>T MANE Select NP_009203.2:p.His57Tyr
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