Canonical Allele Identifier: CA2004808830

Gene: SC5D

Linked Data

• dbSNP Id: rs1947938606

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303345T>C , CM000673.2:g.121303345T>C	GRCh38
NC_000011.9:g.121174054T>C , CM000673.1:g.121174054T>C	GRCh37
NC_000011.8:g.120679264T>C	NCBI36
NG_009446.1:g.15667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.-10-21T>C MANE Select	ENSP00000264027.4:n.-10-21T>C
ENST00000264027.8:c.-10-21T>C	ENSP00000264027.4:n.-10-21T>C
ENST00000392789.2:c.-10-21T>C	ENSP00000376539.2:n.-10-21T>C
ENST00000524683.5:n.47-21T>C
ENST00000527762.5:c.-10-21T>C	ENSP00000436290.1:n.-10-21T>C
ENST00000531140.1:n.59-21T>C
ENST00000534230.5:c.-10-21T>C	ENSP00000432550.1:n.-10-21T>C
ENST00000534455.5:n.137-21T>C
NM_001024956.2:c.-10-21T>C	NP_001020127.1:n.-10-21T>C
NM_006918.4:c.-10-21T>C	NP_008849.2:n.-10-21T>C
NM_006918.5:c.-10-21T>C MANE Select	NP_008849.2:n.-10-21T>C
NM_001024956.3:c.-10-21T>C	NP_001020127.1:n.-10-21T>C