Canonical Allele Identifier: CA477383808

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121177963T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307254T>C , CM000673.2:g.121307254T>C	GRCh38
NC_000011.9:g.121177963T>C , CM000673.1:g.121177963T>C	GRCh37
NC_000011.8:g.120683173T>C	NCBI36
NG_009446.1:g.19576T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.642T>C MANE Select	ENSP00000264027.4:p.Arg214=
ENST00000264027.8:c.642T>C	ENSP00000264027.4:p.Arg214=
ENST00000392789.2:c.642T>C	ENSP00000376539.2:p.Arg214=
ENST00000527183.1:n.935T>C
ENST00000528991.1:n.335T>C
ENST00000534230.5:c.631+11T>C	ENSP00000432550.1:n.631+11T>C
NM_001024956.2:c.642T>C	NP_001020127.1:p.Arg214=
NM_006918.4:c.642T>C	NP_008849.2:p.Arg214=
NM_006918.5:c.642T>C MANE Select	NP_008849.2:p.Arg214=
NM_001024956.3:c.642T>C	NP_001020127.1:p.Arg214=