Canonical Allele Identifier: CA416207435
Gene: CTRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.15772217G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445722G>C , CM000663.2:g.15445722G>C GRCh38
NC_000001.10:g.15772217G>C , CM000663.1:g.15772217G>C GRCh37
NC_000001.9:g.15644804G>C NCBI36
NG_009253.1:g.12280G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.765G>C MANE Select ENSP00000365116.4:p.Val255=
ENST00000375943.6:c.*219G>C ENSP00000365110.2:n.*219G>C
ENST00000375949.4:c.765G>C ENSP00000365116.4:p.Val255=
ENST00000483406.1:n.529G>C
NM_007272.2:c.765G>C NP_009203.2:p.Val255=
XM_011540550.1:c.619G>C XP_011538852.1:p.Val207Leu
NM_007272.3:c.765G>C MANE Select NP_009203.2:p.Val255=