Canonical Allele Identifier: CA383030650
Gene: SC5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307369T>G , CM000673.2:g.121307369T>G GRCh38
NC_000011.9:g.121178078T>G , CM000673.1:g.121178078T>G GRCh37
NC_000011.8:g.120683288T>G NCBI36
NG_009446.1:g.19691T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.757T>G MANE Select ENSP00000264027.4:p.Ser253Ala
ENST00000264027.8:c.757T>G ENSP00000264027.4:p.Ser253Ala
ENST00000392789.2:c.757T>G ENSP00000376539.2:p.Ser253Ala
ENST00000527183.1:n.1050T>G
ENST00000534230.5:c.632-88T>G ENSP00000432550.1:n.632-88T>G
NM_001024956.2:c.757T>G NP_001020127.1:p.Ser253Ala
NM_006918.4:c.757T>G NP_008849.2:p.Ser253Ala
NM_006918.5:c.757T>G MANE Select NP_008849.2:p.Ser253Ala
NM_001024956.3:c.757T>G NP_001020127.1:p.Ser253Ala