Canonical Allele Identifier: CA602580461

Gene: SC5D

Linked Data

• dbSNP Id: rs1304321162
• gnomAD v2: 11-121177682-G-T
• gnomAD v3: 11-121306973-G-T
• gnomAD v4: 11-121306973-G-T
• MyVariant Identifiers: chr11:g.121177682G>T (hg19) ; chr11:g.121306973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306973G>T , CM000673.2:g.121306973G>T	GRCh38
NC_000011.9:g.121177682G>T , CM000673.1:g.121177682G>T	GRCh37
NC_000011.8:g.120682892G>T	NCBI36
NG_009446.1:g.19295G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-84G>T MANE Select	ENSP00000264027.4:n.445-84G>T
ENST00000264027.8:c.445-84G>T	ENSP00000264027.4:n.445-84G>T
ENST00000392789.2:c.445-84G>T	ENSP00000376539.2:n.445-84G>T
ENST00000527183.1:n.738-84G>T
ENST00000527762.5:c.466-84G>T	ENSP00000436290.1:n.466-84G>T
ENST00000528991.1:n.138-84G>T
ENST00000534230.5:c.445-84G>T	ENSP00000432550.1:n.445-84G>T
NM_001024956.2:c.445-84G>T	NP_001020127.1:n.445-84G>T
NM_006918.4:c.445-84G>T	NP_008849.2:n.445-84G>T
NM_006918.5:c.445-84G>T MANE Select	NP_008849.2:n.445-84G>T
NM_001024956.3:c.445-84G>T	NP_001020127.1:n.445-84G>T