Canonical Allele Identifier: CA383026245

Gene: SC5D

Linked Data

• gnomAD v4: 11-121303512-A-T
• MyVariant Identifiers: chr11:g.121174221A>T (hg19) ; chr11:g.121303512A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303512A>T , CM000673.2:g.121303512A>T	GRCh38
NC_000011.9:g.121174221A>T , CM000673.1:g.121174221A>T	GRCh37
NC_000011.8:g.120679431A>T	NCBI36
NG_009446.1:g.15834A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264027.9:c.137A>T MANE Select	ENSP00000264027.4:p.Tyr46Phe
ENST00000264027.8:c.137A>T	ENSP00000264027.4:p.Tyr46Phe
ENST00000392789.2:c.137A>T	ENSP00000376539.2:p.Tyr46Phe
ENST00000524683.5:n.193A>T
ENST00000527762.5:c.137A>T	ENSP00000436290.1:p.Tyr46Phe
ENST00000531140.1:n.205A>T
ENST00000534230.5:c.137A>T	ENSP00000432550.1:p.Tyr46Phe
ENST00000534455.5:n.283A>T
NM_001024956.2:c.137A>T	NP_001020127.1:p.Tyr46Phe
NM_006918.4:c.137A>T	NP_008849.2:p.Tyr46Phe
NM_006918.5:c.137A>T MANE Select	NP_008849.2:p.Tyr46Phe
NM_001024956.3:c.137A>T	NP_001020127.1:p.Tyr46Phe