Canonical Allele Identifier: CA613473
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1761026
ClinVar RCV Id: RCV002412339
dbSNP Id: rs769975164
ExAC: 1:15772240 A / C
gnomAD v2: 1-15772240-A-C
gnomAD v3: 1-15445745-A-C
gnomAD v4: 1-15445745-A-C
MyVariant Identifiers: chr1:g.15772240A>C (hg19) chr1:g.15445745A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445745A>C , CM000663.2:g.15445745A>C GRCh38
NC_000001.10:g.15772240A>C , CM000663.1:g.15772240A>C GRCh37
NC_000001.9:g.15644827A>C NCBI36
NG_009253.1:g.12303A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.788A>C MANE Select ENSP00000365116.4:p.Asn263Thr
ENST00000375943.6:c.*242A>C ENSP00000365110.2:n.*242A>C
ENST00000375949.4:c.788A>C ENSP00000365116.4:p.Asn263Thr
ENST00000483406.1:n.552A>C
NM_007272.2:c.788A>C NP_009203.2:p.Asn263Thr
XM_011540550.1:c.642A>C XP_011538852.1:p.Gln214His
NM_007272.3:c.788A>C MANE Select NP_009203.2:p.Asn263Thr
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