Canonical Allele Identifier: CA10075411
Community Standard Title: NM_002340.6(LSS):c.620G>C (p.Gly207Ala)
Gene: LSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46219503C>G , CM000683.2:g.46219503C>G GRCh38
NC_000021.8:g.47639417C>G , CM000683.1:g.47639417C>G GRCh37
NC_000021.7:g.46463845C>G NCBI36
NG_011510.1:g.14322G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002340.6:c.620G>C MANE Select NP_002331.3:p.Gly207Ala
ENST00000397728.8:c.620G>C MANE Select ENSP00000380837.2:p.Gly207Ala
NM_001001438.2:c.620G>C NP_001001438.1:p.Gly207Ala
NM_001001438.3:c.620G>C NP_001001438.1:p.Gly207Ala
NM_001145436.1:c.587G>C NP_001138908.1:p.Gly196Ala
NM_001145436.2:c.587G>C NP_001138908.1:p.Gly196Ala
NM_001145437.1:c.380G>C NP_001138909.1:p.Gly127Ala
NM_001145437.2:c.380G>C NP_001138909.1:p.Gly127Ala
NM_002340.5:c.620G>C NP_002331.3:p.Gly207Ala
ENST00000356396.8:c.620G>C ENSP00000348762.3:p.Gly207Ala
ENST00000397728.7:c.620G>C ENSP00000380837.2:p.Gly207Ala
ENST00000450351.1:c.623G>C ENSP00000391368.1:p.Gly208Ala
ENST00000457828.6:c.380G>C ENSP00000409191.2:p.Gly127Ala
ENST00000464357.1:n.769G>C
ENST00000522411.5:c.587G>C ENSP00000429133.1:p.Gly196Ala
XM_006724004.2:c.620G>C XP_006724067.1:p.Gly207Ala
XM_006724004.4:c.620G>C XP_006724067.1:p.Gly207Ala
XM_011529564.1:c.620G>C XP_011527866.1:p.Gly207Ala
XM_011529564.3:c.620G>C XP_011527866.1:p.Gly207Ala
XM_011529565.1:c.620G>C XP_011527867.1:p.Gly207Ala
XM_011529565.2:c.620G>C XP_011527867.1:p.Gly207Ala
XM_011529566.1:c.587G>C XP_011527868.1:p.Gly196Ala
XM_011529566.3:c.587G>C XP_011527868.1:p.Gly196Ala
XM_011529567.1:c.620G>C XP_011527869.1:p.Gly207Ala
XM_011529567.3:c.620G>C XP_011527869.1:p.Gly207Ala
XM_017028346.2:c.620G>C XP_016883835.1:p.Gly207Ala
XM_017028347.1:c.587G>C XP_016883836.1:p.Gly196Ala
XM_017028348.2:c.620G>C XP_016883837.1:p.Gly207Ala
XM_024452078.1:c.-71+2351G>C XP_024307846.1:n.-71+2351G>C
XM_024452079.1:c.-71+2351G>C XP_024307847.1:n.-71+2351G>C
XR_937491.1:n.695G>C
XR_937491.3:n.663G>C