Canonical Allele Identifier: CA2419127586

Gene: SMS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978957C= , CM000685.2:g.21978957C=	GRCh38
NC_000023.10:g.21997075C= , CM000685.1:g.21997075C=	GRCh37
NC_000023.9:g.21906996C=	NCBI36
NG_009228.1:g.43234C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.741C= MANE Select	ENSP00000385746.2:p.Asp247=
ENST00000379404.5:c.582C=	ENSP00000368714.1:p.Asp194=
ENST00000404933.6:c.741C=	ENSP00000385746.2:p.Asp247=
NM_001258423.1:c.582C=	NP_001245352.1:p.Asp194=
NM_004595.4:c.741C=	NP_004586.2:p.Asp247=
XM_005274582.1:c.639C=	XP_005274639.1:p.Asp213=
XM_011545568.1:c.639C=	XP_011543870.1:p.Asp213=
XM_005274582.2:c.639C=	XP_005274639.1:p.Asp213=
XM_011545568.2:c.639C=	XP_011543870.1:p.Asp213=
XM_017029753.2:c.741C=	XP_016885242.1:p.Asp247=
XM_017029754.1:c.639C=	XP_016885243.1:p.Asp213=
XM_017029755.1:c.639C=	XP_016885244.1:p.Asp213=
XM_024452427.1:c.639C=	XP_024308195.1:p.Asp213=
NM_004595.5:c.741C= MANE Select	NP_004586.2:p.Asp247=
NM_001258423.2:c.582C=	NP_001245352.1:p.Asp194=