Canonical Allele Identifier: CA6328219

Gene: SC5D

Linked Data

• dbSNP Id: rs778614572
• ExAC: 11:121178023 G / A
• gnomAD v2: 11-121178023-G-A
• gnomAD v4: 11-121307314-G-A
• MyVariant Identifiers: chr11:g.121178023G>A (hg19) ; chr11:g.121307314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307314G>A , CM000673.2:g.121307314G>A	GRCh38
NC_000011.9:g.121178023G>A , CM000673.1:g.121178023G>A	GRCh37
NC_000011.8:g.120683233G>A	NCBI36
NG_009446.1:g.19636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.702G>A MANE Select	ENSP00000264027.4:p.Met234Ile
ENST00000264027.8:c.702G>A	ENSP00000264027.4:p.Met234Ile
ENST00000392789.2:c.702G>A	ENSP00000376539.2:p.Met234Ile
ENST00000527183.1:n.995G>A
ENST00000534230.5:c.631+71G>A	ENSP00000432550.1:n.631+71G>A
NM_001024956.2:c.702G>A	NP_001020127.1:p.Met234Ile
NM_006918.4:c.702G>A	NP_008849.2:p.Met234Ile
NM_006918.5:c.702G>A MANE Select	NP_008849.2:p.Met234Ile
NM_001024956.3:c.702G>A	NP_001020127.1:p.Met234Ile