Canonical Allele Identifier: CA18254140
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs12409952
gnomAD v2: 1-15772470-T-C
gnomAD v3: 1-15445975-T-C
gnomAD v4: 1-15445975-T-C
MyVariant Identifiers: chr1:g.15772470T>C (hg19) chr1:g.15445975T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445975T>C , CM000663.2:g.15445975T>C GRCh38
NC_000001.10:g.15772470T>C , CM000663.1:g.15772470T>C GRCh37
NC_000001.9:g.15645057T>C NCBI36
NG_009253.1:g.12533T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.792+226T>C MANE Select ENSP00000365116.4:n.792+226T>C
ENST00000375943.6:c.*246+226T>C ENSP00000365110.2:n.*246+226T>C
ENST00000375949.4:c.792+226T>C ENSP00000365116.4:n.792+226T>C
ENST00000483406.1:n.556+226T>C
NM_007272.2:c.792+226T>C NP_009203.2:n.792+226T>C
XM_011540550.1:c.646+226T>C XP_011538852.1:n.646+226T>C
NM_007272.3:c.792+226T>C MANE Select NP_009203.2:n.792+226T>C
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