Canonical Allele Identifier: CA412569158

Gene: SMS

Linked Data

• MyVariant Identifiers: chrX:g.21997078C>G (hg19) ; chrX:g.21978960C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978960C>G , CM000685.2:g.21978960C>G	GRCh38
NC_000023.10:g.21997078C>G , CM000685.1:g.21997078C>G	GRCh37
NC_000023.9:g.21906999C>G	NCBI36
NG_009228.1:g.43237C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.744C>G MANE Select	ENSP00000385746.2:p.Cys248Trp
ENST00000379404.5:c.585C>G	ENSP00000368714.1:p.Cys195Trp
ENST00000404933.6:c.744C>G	ENSP00000385746.2:p.Cys248Trp
NM_001258423.1:c.585C>G	NP_001245352.1:p.Cys195Trp
NM_004595.4:c.744C>G	NP_004586.2:p.Cys248Trp
XM_005274582.1:c.642C>G	XP_005274639.1:p.Cys214Trp
XM_011545568.1:c.642C>G	XP_011543870.1:p.Cys214Trp
XM_005274582.2:c.642C>G	XP_005274639.1:p.Cys214Trp
XM_011545568.2:c.642C>G	XP_011543870.1:p.Cys214Trp
XM_017029753.2:c.744C>G	XP_016885242.1:p.Cys248Trp
XM_017029754.1:c.642C>G	XP_016885243.1:p.Cys214Trp
XM_017029755.1:c.642C>G	XP_016885244.1:p.Cys214Trp
XM_024452427.1:c.642C>G	XP_024308195.1:p.Cys214Trp
NM_004595.5:c.744C>G MANE Select	NP_004586.2:p.Cys248Trp
NM_001258423.2:c.585C>G	NP_001245352.1:p.Cys195Trp