Canonical Allele Identifier: CA18250651
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs1057381063
gnomAD v2: 1-15767126-G-C
gnomAD v3: 1-15440630-G-C
gnomAD v4: 1-15440630-G-C
MyVariant Identifiers: chr1:g.15767126G>C (hg19) chr1:g.15440630G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15440630G>C , CM000663.2:g.15440630G>C GRCh38
NC_000001.10:g.15767126G>C , CM000663.1:g.15767126G>C GRCh37
NC_000001.9:g.15639713G>C NCBI36
NG_009253.1:g.7189G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.230+40G>C MANE Select ENSP00000365116.4:n.230+40G>C
ENST00000375943.6:c.41-1817G>C ENSP00000365110.2:n.41-1817G>C
ENST00000375949.4:c.230+40G>C ENSP00000365116.4:n.230+40G>C
ENST00000476813.5:n.53-1817G>C
ENST00000483406.1:n.140+40G>C
NM_007272.2:c.230+40G>C NP_009203.2:n.230+40G>C
XM_011540550.1:c.230+40G>C XP_011538852.1:n.230+40G>C
NM_007272.3:c.230+40G>C MANE Select NP_009203.2:n.230+40G>C
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