Canonical Allele Identifier: CA412569177

Gene: SMS

Linked Data

• MyVariant Identifiers: chrX:g.21997086T>A (hg19) ; chrX:g.21978968T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978968T>A , CM000685.2:g.21978968T>A	GRCh38
NC_000023.10:g.21997086T>A , CM000685.1:g.21997086T>A	GRCh37
NC_000023.9:g.21907007T>A	NCBI36
NG_009228.1:g.43245T>A

Transcript Alleles

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