Canonical Allele Identifier: CA383028858

Gene: SC5D

Linked Data

• gnomAD v4: 11-121307070-C-T
• MyVariant Identifiers: chr11:g.121177779C>T (hg19) ; chr11:g.121307070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307070C>T , CM000673.2:g.121307070C>T	GRCh38
NC_000011.9:g.121177779C>T , CM000673.1:g.121177779C>T	GRCh37
NC_000011.8:g.120682989C>T	NCBI36
NG_009446.1:g.19392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.458C>T MANE Select	ENSP00000264027.4:p.Pro153Leu
ENST00000264027.8:c.458C>T	ENSP00000264027.4:p.Pro153Leu
ENST00000392789.2:c.458C>T	ENSP00000376539.2:p.Pro153Leu
ENST00000527183.1:n.751C>T
ENST00000527762.5:c.479C>T	ENSP00000436290.1:p.Pro160Leu
ENST00000528991.1:n.151C>T
ENST00000534230.5:c.458C>T	ENSP00000432550.1:p.Pro153Leu
NM_001024956.2:c.458C>T	NP_001020127.1:p.Pro153Leu
NM_006918.4:c.458C>T	NP_008849.2:p.Pro153Leu
NM_006918.5:c.458C>T MANE Select	NP_008849.2:p.Pro153Leu
NM_001024956.3:c.458C>T	NP_001020127.1:p.Pro153Leu