Canonical Allele Identifier: CA338567899
Gene: CTRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445708G>A , CM000663.2:g.15445708G>A GRCh38
NC_000001.10:g.15772203G>A , CM000663.1:g.15772203G>A GRCh37
NC_000001.9:g.15644790G>A NCBI36
NG_009253.1:g.12266G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.751G>A MANE Select ENSP00000365116.4:p.Val251Ile
ENST00000375943.6:c.*205G>A ENSP00000365110.2:n.*205G>A
ENST00000375949.4:c.751G>A ENSP00000365116.4:p.Val251Ile
ENST00000483406.1:n.515G>A
NM_007272.2:c.751G>A NP_009203.2:p.Val251Ile
XM_011540550.1:c.605G>A XP_011538852.1:p.Ser202Asn
NM_007272.3:c.751G>A MANE Select NP_009203.2:p.Val251Ile