Canonical Allele Identifier: CA2419127589

Gene: SMS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978973G= , CM000685.2:g.21978973G=	GRCh38
NC_000023.10:g.21997091G= , CM000685.1:g.21997091G=	GRCh37
NC_000023.9:g.21907012G=	NCBI36
NG_009228.1:g.43250G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.750+7G= MANE Select	ENSP00000385746.2:n.750+7G=
ENST00000379404.5:c.591+7G=	ENSP00000368714.1:n.591+7G=
ENST00000404933.6:c.750+7G=	ENSP00000385746.2:n.750+7G=
NM_001258423.1:c.591+7G=	NP_001245352.1:n.591+7G=
NM_004595.4:c.750+7G=	NP_004586.2:n.750+7G=
XM_005274582.1:c.648+7G=	XP_005274639.1:n.648+7G=
XM_011545568.1:c.648+7G=	XP_011543870.1:n.648+7G=
XM_005274582.2:c.648+7G=	XP_005274639.1:n.648+7G=
XM_011545568.2:c.648+7G=	XP_011543870.1:n.648+7G=
XM_017029753.2:c.750+7G=	XP_016885242.1:n.750+7G=
XM_017029754.1:c.648+7G=	XP_016885243.1:n.648+7G=
XM_017029755.1:c.648+7G=	XP_016885244.1:n.648+7G=
XM_024452427.1:c.648+7G=	XP_024308195.1:n.648+7G=
NM_004595.5:c.750+7G= MANE Select	NP_004586.2:n.750+7G=
NM_001258423.2:c.591+7G=	NP_001245352.1:n.591+7G=