Canonical Allele Identifier: CA383030509
Gene: SC5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307337A>T , CM000673.2:g.121307337A>T GRCh38
NC_000011.9:g.121178046A>T , CM000673.1:g.121178046A>T GRCh37
NC_000011.8:g.120683256A>T NCBI36
NG_009446.1:g.19659A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.725A>T MANE Select ENSP00000264027.4:p.Gln242Leu
ENST00000264027.8:c.725A>T ENSP00000264027.4:p.Gln242Leu
ENST00000392789.2:c.725A>T ENSP00000376539.2:p.Gln242Leu
ENST00000527183.1:n.1018A>T
ENST00000534230.5:c.631+94A>T ENSP00000432550.1:n.631+94A>T
NM_001024956.2:c.725A>T NP_001020127.1:p.Gln242Leu
NM_006918.4:c.725A>T NP_008849.2:p.Gln242Leu
NM_006918.5:c.725A>T MANE Select NP_008849.2:p.Gln242Leu
NM_001024956.3:c.725A>T NP_001020127.1:p.Gln242Leu