Canonical Allele Identifier: CA2004810461

Gene: SC5D

Linked Data

• dbSNP Id: rs1947970776
• gnomAD v4: 11-121307015-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307015G>C , CM000673.2:g.121307015G>C	GRCh38
NC_000011.9:g.121177724G>C , CM000673.1:g.121177724G>C	GRCh37
NC_000011.8:g.120682934G>C	NCBI36
NG_009446.1:g.19337G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-42G>C MANE Select	ENSP00000264027.4:n.445-42G>C
ENST00000264027.8:c.445-42G>C	ENSP00000264027.4:n.445-42G>C
ENST00000392789.2:c.445-42G>C	ENSP00000376539.2:n.445-42G>C
ENST00000527183.1:n.738-42G>C
ENST00000527762.5:c.466-42G>C	ENSP00000436290.1:n.466-42G>C
ENST00000528991.1:n.138-42G>C
ENST00000534230.5:c.445-42G>C	ENSP00000432550.1:n.445-42G>C
NM_001024956.2:c.445-42G>C	NP_001020127.1:n.445-42G>C
NM_006918.4:c.445-42G>C	NP_008849.2:n.445-42G>C
NM_006918.5:c.445-42G>C MANE Select	NP_008849.2:n.445-42G>C
NM_001024956.3:c.445-42G>C	NP_001020127.1:n.445-42G>C