Canonical Allele Identifier: CA18254169
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs12754584
gnomAD v3: 1-15446018-G-T
gnomAD v4: 1-15446018-G-T
MyVariant Identifiers: chr1:g.15772513G>T (hg19) chr1:g.15446018G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15446018G>T , CM000663.2:g.15446018G>T GRCh38
NC_000001.10:g.15772513G>T , CM000663.1:g.15772513G>T GRCh37
NC_000001.9:g.15645100G>T NCBI36
NG_009253.1:g.12576G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.792+269G>T MANE Select ENSP00000365116.4:n.792+269G>T
ENST00000375943.6:c.*246+269G>T ENSP00000365110.2:n.*246+269G>T
ENST00000375949.4:c.792+269G>T ENSP00000365116.4:n.792+269G>T
ENST00000483406.1:n.556+269G>T
NM_007272.2:c.792+269G>T NP_009203.2:n.792+269G>T
XM_011540550.1:c.646+269G>T XP_011538852.1:n.646+269G>T
NM_007272.3:c.792+269G>T MANE Select NP_009203.2:n.792+269G>T
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