Canonical Allele Identifier: CA16621304
Gene: SMS HGNC NCBI

Linked Data

ClinVar Variation Id: 421087
ClinVar RCV Id: RCV000480904
dbSNP Id: rs1064794901
MyVariant Identifiers: chrX:g.22002502G>T (hg19) chrX:g.21984384G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21984384G>T , CM000685.2:g.21984384G>T GRCh38
NC_000023.10:g.22002502G>T , CM000685.1:g.22002502G>T GRCh37
NC_000023.9:g.21912423G>T NCBI36
NG_009228.1:g.48661G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000404933.7:c.831G>T MANE Select ENSP00000385746.2:p.Leu277Phe
ENST00000379404.5:c.672G>T ENSP00000368714.1:p.Leu224Phe
ENST00000404933.6:c.831G>T ENSP00000385746.2:p.Leu277Phe
NM_001258423.1:c.672G>T NP_001245352.1:p.Leu224Phe
NM_004595.4:c.831G>T NP_004586.2:p.Leu277Phe
XM_005274582.1:c.729G>T XP_005274639.1:p.Leu243Phe
XM_011545568.1:c.729G>T XP_011543870.1:p.Leu243Phe
XM_005274582.2:c.729G>T XP_005274639.1:p.Leu243Phe
XM_011545568.2:c.729G>T XP_011543870.1:p.Leu243Phe
XM_017029753.2:c.831G>T XP_016885242.1:p.Leu277Phe
XM_017029754.1:c.729G>T XP_016885243.1:p.Leu243Phe
XM_017029755.1:c.729G>T XP_016885244.1:p.Leu243Phe
XM_024452427.1:c.729G>T XP_024308195.1:p.Leu243Phe
NM_004595.5:c.831G>T MANE Select NP_004586.2:p.Leu277Phe
NM_001258423.2:c.672G>T NP_001245352.1:p.Leu224Phe
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