Canonical Allele Identifier: CA6328011

Gene: SC5D

Linked Data

• dbSNP Id: rs767258352
• ExAC: 11:121174078 C / T
• gnomAD v2: 11-121174078-C-T
• gnomAD v4: 11-121303369-C-T
• MyVariant Identifiers: chr11:g.121174078C>T (hg19) ; chr11:g.121303369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303369C>T , CM000673.2:g.121303369C>T	GRCh38
NC_000011.9:g.121174078C>T , CM000673.1:g.121174078C>T	GRCh37
NC_000011.8:g.120679288C>T	NCBI36
NG_009446.1:g.15691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.-7C>T MANE Select	ENSP00000264027.4:n.-7C>T
ENST00000264027.8:c.-7C>T	ENSP00000264027.4:n.-7C>T
ENST00000392789.2:c.-7C>T	ENSP00000376539.2:n.-7C>T
ENST00000524683.5:n.50C>T
ENST00000527762.5:c.-7C>T	ENSP00000436290.1:n.-7C>T
ENST00000531140.1:n.62C>T
ENST00000534230.5:c.-7C>T	ENSP00000432550.1:n.-7C>T
ENST00000534455.5:n.140C>T
NM_001024956.2:c.-7C>T	NP_001020127.1:n.-7C>T
NM_006918.4:c.-7C>T	NP_008849.2:n.-7C>T
NM_006918.5:c.-7C>T MANE Select	NP_008849.2:n.-7C>T
NM_001024956.3:c.-7C>T	NP_001020127.1:n.-7C>T