Canonical Allele Identifier: CA345012
Gene: SMS HGNC NCBI

Linked Data

ClinVar Variation Id: 65677
dbSNP Id: rs397515550
gnomAD v4: X-21971926-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21971926G>A , CM000685.2:g.21971926G>A GRCh38
NC_000023.10:g.21990044G>A , CM000685.1:g.21990044G>A GRCh37
NC_000023.9:g.21899965G>A NCBI36
NG_009228.1:g.36203G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000457085.2:c.545G>A ENSP00000407366.2:p.Gly182Glu
ENST00000404933.7:c.200G>A MANE Select ENSP00000385746.2:p.Gly67Glu
ENST00000379404.5:c.170+4610G>A ENSP00000368714.1:n.170+4610G>A
ENST00000404933.6:c.200G>A ENSP00000385746.2:p.Gly67Glu
ENST00000457085.1:c.474G>A
ENST00000478094.1:n.218-581G>A
NM_001258423.1:c.170+4610G>A NP_001245352.1:n.170+4610G>A
NM_004595.4:c.200G>A NP_004586.2:p.Gly67Glu
XM_005274582.1:c.98G>A XP_005274639.1:p.Gly33Glu
XM_011545568.1:c.98G>A XP_011543870.1:p.Gly33Glu
XM_005274582.2:c.98G>A XP_005274639.1:p.Gly33Glu
XM_011545568.2:c.98G>A XP_011543870.1:p.Gly33Glu
XM_017029753.2:c.200G>A XP_016885242.1:p.Gly67Glu
XM_017029754.1:c.98G>A XP_016885243.1:p.Gly33Glu
XM_017029755.1:c.98G>A XP_016885244.1:p.Gly33Glu
XM_024452427.1:c.98G>A XP_024308195.1:p.Gly33Glu
NM_004595.5:c.200G>A MANE Select NP_004586.2:p.Gly67Glu
NM_001258423.2:c.170+4610G>A NP_001245352.1:n.170+4610G>A