Canonical Allele Identifier: CA412569051

Gene: SMS

Linked Data

• MyVariant Identifiers: chrX:g.21997031A>T (hg19) ; chrX:g.21978913A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978913A>T , CM000685.2:g.21978913A>T	GRCh38
NC_000023.10:g.21997031A>T , CM000685.1:g.21997031A>T	GRCh37
NC_000023.9:g.21906952A>T	NCBI36
NG_009228.1:g.43190A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.697A>T MANE Select	ENSP00000385746.2:p.Met233Leu
ENST00000379404.5:c.538A>T	ENSP00000368714.1:p.Met180Leu
ENST00000404933.6:c.697A>T	ENSP00000385746.2:p.Met233Leu
NM_001258423.1:c.538A>T	NP_001245352.1:p.Met180Leu
NM_004595.4:c.697A>T	NP_004586.2:p.Met233Leu
XM_005274582.1:c.595A>T	XP_005274639.1:p.Met199Leu
XM_011545568.1:c.595A>T	XP_011543870.1:p.Met199Leu
XM_005274582.2:c.595A>T	XP_005274639.1:p.Met199Leu
XM_011545568.2:c.595A>T	XP_011543870.1:p.Met199Leu
XM_017029753.2:c.697A>T	XP_016885242.1:p.Met233Leu
XM_017029754.1:c.595A>T	XP_016885243.1:p.Met199Leu
XM_017029755.1:c.595A>T	XP_016885244.1:p.Met199Leu
XM_024452427.1:c.595A>T	XP_024308195.1:p.Met199Leu
NM_004595.5:c.697A>T MANE Select	NP_004586.2:p.Met233Leu
NM_001258423.2:c.538A>T	NP_001245352.1:p.Met180Leu