Canonical Allele Identifier: CA383026299

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121174232G>A (hg19) ; chr11:g.121303523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303523G>A , CM000673.2:g.121303523G>A	GRCh38
NC_000011.9:g.121174232G>A , CM000673.1:g.121174232G>A	GRCh37
NC_000011.8:g.120679442G>A	NCBI36
NG_009446.1:g.15845G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264027.9:c.148G>A MANE Select	ENSP00000264027.4:p.Ala50Thr
ENST00000264027.8:c.148G>A	ENSP00000264027.4:p.Ala50Thr
ENST00000392789.2:c.148G>A	ENSP00000376539.2:p.Ala50Thr
ENST00000524683.5:n.204G>A
ENST00000527762.5:c.148G>A	ENSP00000436290.1:p.Ala50Thr
ENST00000531140.1:n.216G>A
ENST00000534230.5:c.148G>A	ENSP00000432550.1:p.Ala50Thr
ENST00000534455.5:n.294G>A
NM_001024956.2:c.148G>A	NP_001020127.1:p.Ala50Thr
NM_006918.4:c.148G>A	NP_008849.2:p.Ala50Thr
NM_006918.5:c.148G>A MANE Select	NP_008849.2:p.Ala50Thr
NM_001024956.3:c.148G>A	NP_001020127.1:p.Ala50Thr