Canonical Allele Identifier: CA229856877

Gene: SC5D

Linked Data

• dbSNP Id: rs182628739
• gnomAD v2: 11-121177539-A-G
• gnomAD v3: 11-121306830-A-G
• gnomAD v4: 11-121306830-A-G
• MyVariant Identifiers: chr11:g.121177539A>G (hg19) ; chr11:g.121306830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306830A>G , CM000673.2:g.121306830A>G	GRCh38
NC_000011.9:g.121177539A>G , CM000673.1:g.121177539A>G	GRCh37
NC_000011.8:g.120682749A>G	NCBI36
NG_009446.1:g.19152A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-227A>G MANE Select	ENSP00000264027.4:n.445-227A>G
ENST00000264027.8:c.445-227A>G	ENSP00000264027.4:n.445-227A>G
ENST00000392789.2:c.445-227A>G	ENSP00000376539.2:n.445-227A>G
ENST00000527183.1:n.738-227A>G
ENST00000527762.5:c.466-227A>G	ENSP00000436290.1:n.466-227A>G
ENST00000528991.1:n.138-227A>G
ENST00000534230.5:c.445-227A>G	ENSP00000432550.1:n.445-227A>G
NM_001024956.2:c.445-227A>G	NP_001020127.1:n.445-227A>G
NM_006918.4:c.445-227A>G	NP_008849.2:n.445-227A>G
NM_006918.5:c.445-227A>G MANE Select	NP_008849.2:n.445-227A>G
NM_001024956.3:c.445-227A>G	NP_001020127.1:n.445-227A>G