Canonical Allele Identifier: CA383028794

Gene: SC5D

Linked Data

• gnomAD v4: 11-121307065-T-A
• MyVariant Identifiers: chr11:g.121177774T>A (hg19) ; chr11:g.121307065T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307065T>A , CM000673.2:g.121307065T>A	GRCh38
NC_000011.9:g.121177774T>A , CM000673.1:g.121177774T>A	GRCh37
NC_000011.8:g.120682984T>A	NCBI36
NG_009446.1:g.19387T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.453T>A MANE Select	ENSP00000264027.4:p.His151Gln
ENST00000264027.8:c.453T>A	ENSP00000264027.4:p.His151Gln
ENST00000392789.2:c.453T>A	ENSP00000376539.2:p.His151Gln
ENST00000527183.1:n.746T>A
ENST00000527762.5:c.474T>A	ENSP00000436290.1:p.His158Gln
ENST00000528991.1:n.146T>A
ENST00000534230.5:c.453T>A	ENSP00000432550.1:p.His151Gln
NM_001024956.2:c.453T>A	NP_001020127.1:p.His151Gln
NM_006918.4:c.453T>A	NP_008849.2:p.His151Gln
NM_006918.5:c.453T>A MANE Select	NP_008849.2:p.His151Gln
NM_001024956.3:c.453T>A	NP_001020127.1:p.His151Gln