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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:
CA381338379
Gene: CATSPER1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr11:g.65792916C>A (hg19)
chr11:g.66025445C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.66025445C>A , CM000673.2:g.66025445C>A
GRCh38
NC_000011.9:g.65792916C>A , CM000673.1:g.65792916C>A
GRCh37
NC_000011.8:g.65549492C>A
NCBI36
NG_016285.1:g.6073G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000312106.6:c.935G>T
MANE Select
ENSP00000309052.5:p.Ser312Ile
ENST00000312106.5:c.935G>T
ENSP00000309052.5:p.Ser312Ile
NM_053054.3:c.935G>T
NP_444282.3:p.Ser312Ile
XR_949785.1:n.1075G>T
XR_949786.1:n.1075G>T
XR_949787.1:n.1075G>T
XR_002957121.1:n.1073G>T
XR_002957122.1:n.1074G>T
XR_949785.2:n.1073G>T
XR_949787.2:n.1074G>T
NM_053054.4:c.935G>T
MANE Select
NP_444282.3:p.Ser312Ile
Search 100 bp 5'
Search 100 bp 3'