Canonical Allele Identifier: CA10638094
Gene: SC5D HGNC NCBI

Linked Data

ClinVar Variation Id: 303100
ClinVar RCV Id: RCV000330117
dbSNP Id: rs886047869
MyVariant Identifiers: chr11:g.121181886C>T (hg19) chr11:g.121311177C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121311177C>T , CM000673.2:g.121311177C>T GRCh38
NC_000011.9:g.121181886C>T , CM000673.1:g.121181886C>T GRCh37
NC_000011.8:g.120687096C>T NCBI36
NG_009446.1:g.23499C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.*3665C>T MANE Select ENSP00000264027.4:n.*3665C>T
NM_001024956.2:c.*3665C>T NP_001020127.1:n.*3665C>T
NM_006918.4:c.*3665C>T NP_008849.2:n.*3665C>T
NM_006918.5:c.*3665C>T MANE Select NP_008849.2:n.*3665C>T
NM_001024956.3:c.*3665C>T NP_001020127.1:n.*3665C>T
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