Canonical Allele Identifier: CA416207382
Gene: CTRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.15772169C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445674C>G , CM000663.2:g.15445674C>G GRCh38
NC_000001.10:g.15772169C>G , CM000663.1:g.15772169C>G GRCh37
NC_000001.9:g.15644756C>G NCBI36
NG_009253.1:g.12232C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.717C>G MANE Select ENSP00000365116.4:p.Ser239=
ENST00000375943.6:c.*171C>G ENSP00000365110.2:n.*171C>G
ENST00000375949.4:c.717C>G ENSP00000365116.4:p.Ser239=
ENST00000483406.1:n.481C>G
NM_007272.2:c.717C>G NP_009203.2:p.Ser239=
XM_011540550.1:c.571C>G XP_011538852.1:p.Pro191Ala
NM_007272.3:c.717C>G MANE Select NP_009203.2:p.Ser239=