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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA338567953
Gene: CTRC
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.15772219C>A (hg19)
chr1:g.15445724C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.15445724C>A , CM000663.2:g.15445724C>A
GRCh38
NC_000001.10:g.15772219C>A , CM000663.1:g.15772219C>A
GRCh37
NC_000001.9:g.15644806C>A
NCBI36
NG_009253.1:g.12282C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000375949.5:c.767C>A
MANE Select
ENSP00000365116.4:p.Ser256Tyr
ENST00000375943.6:c.*221C>A
ENSP00000365110.2:n.*221C>A
ENST00000375949.4:c.767C>A
ENSP00000365116.4:p.Ser256Tyr
ENST00000483406.1:n.531C>A
NM_007272.2:c.767C>A
NP_009203.2:p.Ser256Tyr
XM_011540550.1:c.621C>A
XP_011538852.1:p.Val207=
NM_007272.3:c.767C>A
MANE Select
NP_009203.2:p.Ser256Tyr
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