Canonical Allele Identifier: CA6328226

Gene: SC5D

Linked Data

• dbSNP Id: rs762183407
• ExAC: 11:121178079 C / T
• gnomAD v2: 11-121178079-C-T
• gnomAD v4: 11-121307370-C-T
• MyVariant Identifiers: chr11:g.121178079C>T (hg19) ; chr11:g.121307370C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307370C>T , CM000673.2:g.121307370C>T	GRCh38
NC_000011.9:g.121178079C>T , CM000673.1:g.121178079C>T	GRCh37
NC_000011.8:g.120683289C>T	NCBI36
NG_009446.1:g.19692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.758C>T MANE Select	ENSP00000264027.4:p.Ser253Leu
ENST00000264027.8:c.758C>T	ENSP00000264027.4:p.Ser253Leu
ENST00000392789.2:c.758C>T	ENSP00000376539.2:p.Ser253Leu
ENST00000527183.1:n.1051C>T
ENST00000534230.5:c.632-87C>T	ENSP00000432550.1:n.632-87C>T
NM_001024956.2:c.758C>T	NP_001020127.1:p.Ser253Leu
NM_006918.4:c.758C>T	NP_008849.2:p.Ser253Leu
NM_006918.5:c.758C>T MANE Select	NP_008849.2:p.Ser253Leu
NM_001024956.3:c.758C>T	NP_001020127.1:p.Ser253Leu