Canonical Allele Identifier: CA477383865

Gene: SC5D

Linked Data

• gnomAD v3: 11-121307329-T-C
• gnomAD v4: 11-121307329-T-C
• MyVariant Identifiers: chr11:g.121178038T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307329T>C , CM000673.2:g.121307329T>C	GRCh38
NC_000011.9:g.121178038T>C , CM000673.1:g.121178038T>C	GRCh37
NC_000011.8:g.120683248T>C	NCBI36
NG_009446.1:g.19651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.717T>C MANE Select	ENSP00000264027.4:p.Asn239=
ENST00000264027.8:c.717T>C	ENSP00000264027.4:p.Asn239=
ENST00000392789.2:c.717T>C	ENSP00000376539.2:p.Asn239=
ENST00000527183.1:n.1010T>C
ENST00000534230.5:c.631+86T>C	ENSP00000432550.1:n.631+86T>C
NM_001024956.2:c.717T>C	NP_001020127.1:p.Asn239=
NM_006918.4:c.717T>C	NP_008849.2:p.Asn239=
NM_006918.5:c.717T>C MANE Select	NP_008849.2:p.Asn239=
NM_001024956.3:c.717T>C	NP_001020127.1:p.Asn239=