Canonical Allele Identifier: CA341122
Gene: SMS HGNC NCBI

Linked Data

ClinVar Variation Id: 11624
ClinVar RCV Id: RCV000012390 RCV000210586 RCV000414369
dbSNP Id: rs121434610
MyVariant Identifiers: chrX:g.21985430G>A (hg19) chrX:g.21967312G>A (hg38)
PubMed: PMID:18550699 PMID:23805436
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21967312G>A , CM000685.2:g.21967312G>A GRCh38
NC_000023.10:g.21985430G>A , CM000685.1:g.21985430G>A GRCh37
NC_000023.9:g.21895351G>A NCBI36
NG_009228.1:g.31589G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000457085.2:c.511G>A ENSP00000407366.2:p.Gly171Ser
ENST00000404933.7:c.166G>A MANE Select ENSP00000385746.2:p.Gly56Ser
ENST00000379404.5:c.166G>A ENSP00000368714.1:p.Gly56Ser
ENST00000404933.6:c.166G>A ENSP00000385746.2:p.Gly56Ser
ENST00000457085.1:c.440G>A
ENST00000478094.1:n.213G>A
NM_001258423.1:c.166G>A NP_001245352.1:p.Gly56Ser
NM_004595.4:c.166G>A NP_004586.2:p.Gly56Ser
XM_005274582.1:c.64G>A XP_005274639.1:p.Gly22Ser
XM_011545568.1:c.64G>A XP_011543870.1:p.Gly22Ser
XM_005274582.2:c.64G>A XP_005274639.1:p.Gly22Ser
XM_011545568.2:c.64G>A XP_011543870.1:p.Gly22Ser
XM_017029753.2:c.166G>A XP_016885242.1:p.Gly56Ser
XM_017029754.1:c.64G>A XP_016885243.1:p.Gly22Ser
XM_017029755.1:c.64G>A XP_016885244.1:p.Gly22Ser
XM_024452427.1:c.64G>A XP_024308195.1:p.Gly22Ser
NM_004595.5:c.166G>A MANE Select NP_004586.2:p.Gly56Ser
NM_001258423.2:c.166G>A NP_001245352.1:p.Gly56Ser
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