Canonical Allele Identifier: CA416207442
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs1708207989
gnomAD v3: 1-15445728-C-T
gnomAD v4: 1-15445728-C-T
MyVariant Identifiers: chr1:g.15772223C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445728C>T , CM000663.2:g.15445728C>T GRCh38
NC_000001.10:g.15772223C>T , CM000663.1:g.15772223C>T GRCh37
NC_000001.9:g.15644810C>T NCBI36
NG_009253.1:g.12286C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.771C>T MANE Select ENSP00000365116.4:p.Ala257=
ENST00000375943.6:c.*225C>T ENSP00000365110.2:n.*225C>T
ENST00000375949.4:c.771C>T ENSP00000365116.4:p.Ala257=
ENST00000483406.1:n.535C>T
NM_007272.2:c.771C>T NP_009203.2:p.Ala257=
XM_011540550.1:c.625C>T XP_011538852.1:p.Leu209=
NM_007272.3:c.771C>T MANE Select NP_009203.2:p.Ala257=
Search 100 bp 5'
Search 100 bp 3'