Canonical Allele Identifier: CA383030611

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121178068G>T (hg19) ; chr11:g.121307359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307359G>T , CM000673.2:g.121307359G>T	GRCh38
NC_000011.9:g.121178068G>T , CM000673.1:g.121178068G>T	GRCh37
NC_000011.8:g.120683278G>T	NCBI36
NG_009446.1:g.19681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.747G>T MANE Select	ENSP00000264027.4:p.Arg249Ser
ENST00000264027.8:c.747G>T	ENSP00000264027.4:p.Arg249Ser
ENST00000392789.2:c.747G>T	ENSP00000376539.2:p.Arg249Ser
ENST00000527183.1:n.1040G>T
ENST00000534230.5:c.632-98G>T	ENSP00000432550.1:n.632-98G>T
NM_001024956.2:c.747G>T	NP_001020127.1:p.Arg249Ser
NM_006918.4:c.747G>T	NP_008849.2:p.Arg249Ser
NM_006918.5:c.747G>T MANE Select	NP_008849.2:p.Arg249Ser
NM_001024956.3:c.747G>T	NP_001020127.1:p.Arg249Ser