Canonical Allele Identifier: CA383030560
Gene: SC5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307348T>A , CM000673.2:g.121307348T>A GRCh38
NC_000011.9:g.121178057T>A , CM000673.1:g.121178057T>A GRCh37
NC_000011.8:g.120683267T>A NCBI36
NG_009446.1:g.19670T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.736T>A MANE Select ENSP00000264027.4:p.Leu246Met
ENST00000264027.8:c.736T>A ENSP00000264027.4:p.Leu246Met
ENST00000392789.2:c.736T>A ENSP00000376539.2:p.Leu246Met
ENST00000527183.1:n.1029T>A
ENST00000534230.5:c.631+105T>A ENSP00000432550.1:n.631+105T>A
NM_001024956.2:c.736T>A NP_001020127.1:p.Leu246Met
NM_006918.4:c.736T>A NP_008849.2:p.Leu246Met
NM_006918.5:c.736T>A MANE Select NP_008849.2:p.Leu246Met
NM_001024956.3:c.736T>A NP_001020127.1:p.Leu246Met