Canonical Allele Identifier: CA338567711
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 2683701
ClinVar RCV Id: RCV003480521
gnomAD v4: 1-15445618-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445618A>T , CM000663.2:g.15445618A>T GRCh38
NC_000001.10:g.15772113A>T , CM000663.1:g.15772113A>T GRCh37
NC_000001.9:g.15644700A>T NCBI36
NG_009253.1:g.12176A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.661A>T MANE Select ENSP00000365116.4:p.Asn221Tyr
ENST00000375943.6:c.*115A>T ENSP00000365110.2:n.*115A>T
ENST00000375949.4:c.661A>T ENSP00000365116.4:p.Asn221Tyr
ENST00000483406.1:n.425A>T
NM_007272.2:c.661A>T NP_009203.2:p.Asn221Tyr
XM_011540550.1:c.515A>T XP_011538852.1:p.Glu172Val
NM_007272.3:c.661A>T MANE Select NP_009203.2:p.Asn221Tyr