Canonical Allele Identifier: CA2419127576

Gene: SMS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978897T= , CM000685.2:g.21978897T=	GRCh38
NC_000023.10:g.21997015T= , CM000685.1:g.21997015T=	GRCh37
NC_000023.9:g.21906936T=	NCBI36
NG_009228.1:g.43174T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.681T= MANE Select	ENSP00000385746.2:p.Asp227=
ENST00000379404.5:c.522T=	ENSP00000368714.1:p.Asp174=
ENST00000404933.6:c.681T=	ENSP00000385746.2:p.Asp227=
NM_001258423.1:c.522T=	NP_001245352.1:p.Asp174=
NM_004595.4:c.681T=	NP_004586.2:p.Asp227=
XM_005274582.1:c.579T=	XP_005274639.1:p.Asp193=
XM_011545568.1:c.579T=	XP_011543870.1:p.Asp193=
XM_005274582.2:c.579T=	XP_005274639.1:p.Asp193=
XM_011545568.2:c.579T=	XP_011543870.1:p.Asp193=
XM_017029753.2:c.681T=	XP_016885242.1:p.Asp227=
XM_017029754.1:c.579T=	XP_016885243.1:p.Asp193=
XM_017029755.1:c.579T=	XP_016885244.1:p.Asp193=
XM_024452427.1:c.579T=	XP_024308195.1:p.Asp193=
NM_004595.5:c.681T= MANE Select	NP_004586.2:p.Asp227=
NM_001258423.2:c.522T=	NP_001245352.1:p.Asp174=