Canonical Allele Identifier: CA6328138

Gene: SC5D

Linked Data

• ClinVar Variation Id: 303054
• ClinVar RCV Id: RCV000311343 ; RCV002520684
• dbSNP Id: rs760625340
• ExAC: 11:121177206 T / C
• gnomAD v2: 11-121177206-T-C
• gnomAD v3: 11-121306497-T-C
• gnomAD v4: 11-121306497-T-C
• MyVariant Identifiers: chr11:g.121177206T>C (hg19) ; chr11:g.121306497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306497T>C , CM000673.2:g.121306497T>C	GRCh38
NC_000011.9:g.121177206T>C , CM000673.1:g.121177206T>C	GRCh37
NC_000011.8:g.120682416T>C	NCBI36
NG_009446.1:g.18819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.444+11T>C MANE Select	ENSP00000264027.4:n.444+11T>C
ENST00000264027.8:c.444+11T>C	ENSP00000264027.4:n.444+11T>C
ENST00000392789.2:c.444+11T>C	ENSP00000376539.2:n.444+11T>C
ENST00000527183.1:n.737+11T>C
ENST00000527762.5:c.465+11T>C	ENSP00000436290.1:n.465+11T>C
ENST00000528991.1:n.137+11T>C
ENST00000531140.1:n.523T>C
ENST00000534230.5:c.444+11T>C	ENSP00000432550.1:n.444+11T>C
NM_001024956.2:c.444+11T>C	NP_001020127.1:n.444+11T>C
NM_006918.4:c.444+11T>C	NP_008849.2:n.444+11T>C
NM_006918.5:c.444+11T>C MANE Select	NP_008849.2:n.444+11T>C
NM_001024956.3:c.444+11T>C	NP_001020127.1:n.444+11T>C