Canonical Allele Identifier: CA412569168

Gene: SMS

Linked Data

• COSMIC: COSM3560404 ; COSM3560405
• MyVariant Identifiers: chrX:g.21997082C>T (hg19) ; chrX:g.21978964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978964C>T , CM000685.2:g.21978964C>T	GRCh38
NC_000023.10:g.21997082C>T , CM000685.1:g.21997082C>T	GRCh37
NC_000023.9:g.21907003C>T	NCBI36
NG_009228.1:g.43241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.748C>T MANE Select	ENSP00000385746.2:p.Gln250Ter
ENST00000379404.5:c.589C>T	ENSP00000368714.1:p.Gln197Ter
ENST00000404933.6:c.748C>T	ENSP00000385746.2:p.Gln250Ter
NM_001258423.1:c.589C>T	NP_001245352.1:p.Gln197Ter
NM_004595.4:c.748C>T	NP_004586.2:p.Gln250Ter
XM_005274582.1:c.646C>T	XP_005274639.1:p.Gln216Ter
XM_011545568.1:c.646C>T	XP_011543870.1:p.Gln216Ter
XM_005274582.2:c.646C>T	XP_005274639.1:p.Gln216Ter
XM_011545568.2:c.646C>T	XP_011543870.1:p.Gln216Ter
XM_017029753.2:c.748C>T	XP_016885242.1:p.Gln250Ter
XM_017029754.1:c.646C>T	XP_016885243.1:p.Gln216Ter
XM_017029755.1:c.646C>T	XP_016885244.1:p.Gln216Ter
XM_024452427.1:c.646C>T	XP_024308195.1:p.Gln216Ter
NM_004595.5:c.748C>T MANE Select	NP_004586.2:p.Gln250Ter
NM_001258423.2:c.589C>T	NP_001245352.1:p.Gln197Ter