Canonical Allele Identifier: CA6328207
Gene: SC5D HGNC NCBI

Linked Data

ClinVar Variation Id: 2181281
ClinVar RCV Id: RCV002603243
dbSNP Id: rs757168329
ExAC: 11:121177952 G / C
gnomAD v2: 11-121177952-G-C
gnomAD v4: 11-121307243-G-C
MyVariant Identifiers: chr11:g.121177952G>C (hg19) chr11:g.121307243G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307243G>C , CM000673.2:g.121307243G>C GRCh38
NC_000011.9:g.121177952G>C , CM000673.1:g.121177952G>C GRCh37
NC_000011.8:g.120683162G>C NCBI36
NG_009446.1:g.19565G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.631G>C MANE Select ENSP00000264027.4:p.Gly211Arg
ENST00000264027.8:c.631G>C ENSP00000264027.4:p.Gly211Arg
ENST00000392789.2:c.631G>C ENSP00000376539.2:p.Gly211Arg
ENST00000527183.1:n.924G>C
ENST00000528991.1:n.324G>C
ENST00000534230.5:c.631G>C ENSP00000432550.1:p.Gly211Arg
NM_001024956.2:c.631G>C NP_001020127.1:p.Gly211Arg
NM_006918.4:c.631G>C NP_008849.2:p.Gly211Arg
NM_006918.5:c.631G>C MANE Select NP_008849.2:p.Gly211Arg
NM_001024956.3:c.631G>C NP_001020127.1:p.Gly211Arg
Search 100 bp 5'
Search 100 bp 3'