Canonical Allele Identifier: CA338567893
Gene: CTRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445705G>A , CM000663.2:g.15445705G>A GRCh38
NC_000001.10:g.15772200G>A , CM000663.1:g.15772200G>A GRCh37
NC_000001.9:g.15644787G>A NCBI36
NG_009253.1:g.12263G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.748G>A MANE Select ENSP00000365116.4:p.Val250Ile
ENST00000375943.6:c.*202G>A ENSP00000365110.2:n.*202G>A
ENST00000375949.4:c.748G>A ENSP00000365116.4:p.Val250Ile
ENST00000483406.1:n.512G>A
NM_007272.2:c.748G>A NP_009203.2:p.Val250Ile
XM_011540550.1:c.602G>A XP_011538852.1:p.Gly201Asp
NM_007272.3:c.748G>A MANE Select NP_009203.2:p.Val250Ile