Canonical Allele Identifier: CA412569129
Gene: SMS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21978947T>C , CM000685.2:g.21978947T>C GRCh38
NC_000023.10:g.21997065T>C , CM000685.1:g.21997065T>C GRCh37
NC_000023.9:g.21906986T>C NCBI36
NG_009228.1:g.43224T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404933.7:c.731T>C MANE Select ENSP00000385746.2:p.Leu244Pro
ENST00000379404.5:c.572T>C ENSP00000368714.1:p.Leu191Pro
ENST00000404933.6:c.731T>C ENSP00000385746.2:p.Leu244Pro
NM_001258423.1:c.572T>C NP_001245352.1:p.Leu191Pro
NM_004595.4:c.731T>C NP_004586.2:p.Leu244Pro
XM_005274582.1:c.629T>C XP_005274639.1:p.Leu210Pro
XM_011545568.1:c.629T>C XP_011543870.1:p.Leu210Pro
XM_005274582.2:c.629T>C XP_005274639.1:p.Leu210Pro
XM_011545568.2:c.629T>C XP_011543870.1:p.Leu210Pro
XM_017029753.2:c.731T>C XP_016885242.1:p.Leu244Pro
XM_017029754.1:c.629T>C XP_016885243.1:p.Leu210Pro
XM_017029755.1:c.629T>C XP_016885244.1:p.Leu210Pro
XM_024452427.1:c.629T>C XP_024308195.1:p.Leu210Pro
NM_004595.5:c.731T>C MANE Select NP_004586.2:p.Leu244Pro
NM_001258423.2:c.572T>C NP_001245352.1:p.Leu191Pro