Canonical Allele Identifier: CA383030579

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121178061G>C (hg19) ; chr11:g.121307352G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307352G>C , CM000673.2:g.121307352G>C	GRCh38
NC_000011.9:g.121178061G>C , CM000673.1:g.121178061G>C	GRCh37
NC_000011.8:g.120683271G>C	NCBI36
NG_009446.1:g.19674G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.740G>C MANE Select	ENSP00000264027.4:p.Trp247Ser
ENST00000264027.8:c.740G>C	ENSP00000264027.4:p.Trp247Ser
ENST00000392789.2:c.740G>C	ENSP00000376539.2:p.Trp247Ser
ENST00000527183.1:n.1033G>C
ENST00000534230.5:c.632-105G>C	ENSP00000432550.1:n.632-105G>C
NM_001024956.2:c.740G>C	NP_001020127.1:p.Trp247Ser
NM_006918.4:c.740G>C	NP_008849.2:p.Trp247Ser
NM_006918.5:c.740G>C MANE Select	NP_008849.2:p.Trp247Ser
NM_001024956.3:c.740G>C	NP_001020127.1:p.Trp247Ser