Canonical Allele Identifier: CA412569034

Gene: SMS

Linked Data

• MyVariant Identifiers: chrX:g.21997025A>G (hg19) ; chrX:g.21978907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978907A>G , CM000685.2:g.21978907A>G	GRCh38
NC_000023.10:g.21997025A>G , CM000685.1:g.21997025A>G	GRCh37
NC_000023.9:g.21906946A>G	NCBI36
NG_009228.1:g.43184A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.691A>G MANE Select	ENSP00000385746.2:p.Lys231Glu
ENST00000379404.5:c.532A>G	ENSP00000368714.1:p.Lys178Glu
ENST00000404933.6:c.691A>G	ENSP00000385746.2:p.Lys231Glu
NM_001258423.1:c.532A>G	NP_001245352.1:p.Lys178Glu
NM_004595.4:c.691A>G	NP_004586.2:p.Lys231Glu
XM_005274582.1:c.589A>G	XP_005274639.1:p.Lys197Glu
XM_011545568.1:c.589A>G	XP_011543870.1:p.Lys197Glu
XM_005274582.2:c.589A>G	XP_005274639.1:p.Lys197Glu
XM_011545568.2:c.589A>G	XP_011543870.1:p.Lys197Glu
XM_017029753.2:c.691A>G	XP_016885242.1:p.Lys231Glu
XM_017029754.1:c.589A>G	XP_016885243.1:p.Lys197Glu
XM_017029755.1:c.589A>G	XP_016885244.1:p.Lys197Glu
XM_024452427.1:c.589A>G	XP_024308195.1:p.Lys197Glu
NM_004595.5:c.691A>G MANE Select	NP_004586.2:p.Lys231Glu
NM_001258423.2:c.532A>G	NP_001245352.1:p.Lys178Glu