Canonical Allele Identifier: CA229857007

Gene: SC5D

Linked Data

• dbSNP Id: rs986956987
• gnomAD v3: 11-121306961-A-G
• gnomAD v4: 11-121306961-A-G
• MyVariant Identifiers: chr11:g.121177670A>G (hg19) ; chr11:g.121306961A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306961A>G , CM000673.2:g.121306961A>G	GRCh38
NC_000011.9:g.121177670A>G , CM000673.1:g.121177670A>G	GRCh37
NC_000011.8:g.120682880A>G	NCBI36
NG_009446.1:g.19283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-96A>G MANE Select	ENSP00000264027.4:n.445-96A>G
ENST00000264027.8:c.445-96A>G	ENSP00000264027.4:n.445-96A>G
ENST00000392789.2:c.445-96A>G	ENSP00000376539.2:n.445-96A>G
ENST00000527183.1:n.738-96A>G
ENST00000527762.5:c.466-96A>G	ENSP00000436290.1:n.466-96A>G
ENST00000528991.1:n.138-96A>G
ENST00000534230.5:c.445-96A>G	ENSP00000432550.1:n.445-96A>G
NM_001024956.2:c.445-96A>G	NP_001020127.1:n.445-96A>G
NM_006918.4:c.445-96A>G	NP_008849.2:n.445-96A>G
NM_006918.5:c.445-96A>G MANE Select	NP_008849.2:n.445-96A>G
NM_001024956.3:c.445-96A>G	NP_001020127.1:n.445-96A>G