Canonical Allele Identifier: CA6328006

Gene: SC5D

Linked Data

• dbSNP Id: rs770882447
• ExAC: 11:121174043 G / A
• gnomAD v2: 11-121174043-G-A
• gnomAD v4: 11-121303334-G-A
• MyVariant Identifiers: chr11:g.121174043G>A (hg19) ; chr11:g.121303334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303334G>A , CM000673.2:g.121303334G>A	GRCh38
NC_000011.9:g.121174043G>A , CM000673.1:g.121174043G>A	GRCh37
NC_000011.8:g.120679253G>A	NCBI36
NG_009446.1:g.15656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.-10-32G>A MANE Select	ENSP00000264027.4:n.-10-32G>A
ENST00000264027.8:c.-10-32G>A	ENSP00000264027.4:n.-10-32G>A
ENST00000392789.2:c.-10-32G>A	ENSP00000376539.2:n.-10-32G>A
ENST00000524683.5:n.47-32G>A
ENST00000527762.5:c.-10-32G>A	ENSP00000436290.1:n.-10-32G>A
ENST00000531140.1:n.59-32G>A
ENST00000534230.5:c.-10-32G>A	ENSP00000432550.1:n.-10-32G>A
ENST00000534455.5:n.137-32G>A
NM_001024956.2:c.-10-32G>A	NP_001020127.1:n.-10-32G>A
NM_006918.4:c.-10-32G>A	NP_008849.2:n.-10-32G>A
NM_006918.5:c.-10-32G>A MANE Select	NP_008849.2:n.-10-32G>A
NM_001024956.3:c.-10-32G>A	NP_001020127.1:n.-10-32G>A