Canonical Allele Identifier: CA10075218
Community Standard Title: NM_002340.6(LSS):c.1012-40G>C
Gene: LSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46213875C>G , CM000683.2:g.46213875C>G GRCh38
NC_000021.8:g.47633789C>G , CM000683.1:g.47633789C>G GRCh37
NC_000021.7:g.46458217C>G NCBI36
NG_011510.1:g.19950G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002340.6:c.1012-40G>C MANE Select NP_002331.3:n.1012-40G>C
ENST00000397728.8:c.1012-40G>C MANE Select ENSP00000380837.2:n.1012-40G>C
NM_001001438.2:c.1012-40G>C NP_001001438.1:n.1012-40G>C
NM_001001438.3:c.1012-40G>C NP_001001438.1:n.1012-40G>C
NM_001145436.1:c.979-40G>C NP_001138908.1:n.979-40G>C
NM_001145436.2:c.979-40G>C NP_001138908.1:n.979-40G>C
NM_001145437.1:c.772-40G>C NP_001138909.1:n.772-40G>C
NM_001145437.2:c.772-40G>C NP_001138909.1:n.772-40G>C
NM_002340.5:c.1012-40G>C NP_002331.3:n.1012-40G>C
ENST00000356396.8:c.1012-40G>C ENSP00000348762.3:n.1012-40G>C
ENST00000397728.7:c.1012-40G>C ENSP00000380837.2:n.1012-40G>C
ENST00000457828.6:c.772-40G>C ENSP00000409191.2:n.772-40G>C
ENST00000522411.5:c.979-40G>C ENSP00000429133.1:n.979-40G>C
XM_006724004.2:c.1012-40G>C XP_006724067.1:n.1012-40G>C
XM_006724004.4:c.1012-40G>C XP_006724067.1:n.1012-40G>C
XM_011529564.1:c.1012-40G>C XP_011527866.1:n.1012-40G>C
XM_011529564.3:c.1012-40G>C XP_011527866.1:n.1012-40G>C
XM_011529565.1:c.1012-40G>C XP_011527867.1:n.1012-40G>C
XM_011529565.2:c.1012-40G>C XP_011527867.1:n.1012-40G>C
XM_011529566.1:c.979-40G>C XP_011527868.1:n.979-40G>C
XM_011529566.3:c.979-40G>C XP_011527868.1:n.979-40G>C
XM_011529567.1:c.1012-40G>C XP_011527869.1:n.1012-40G>C
XM_011529567.3:c.1012-40G>C XP_011527869.1:n.1012-40G>C
XM_017028346.2:c.1012-40G>C XP_016883835.1:n.1012-40G>C
XM_017028347.1:c.979-40G>C XP_016883836.1:n.979-40G>C
XM_017028348.2:c.1012-40G>C XP_016883837.1:n.1012-40G>C
XM_024452078.1:c.295-40G>C XP_024307846.1:n.295-40G>C
XM_024452079.1:c.295-40G>C XP_024307847.1:n.295-40G>C
XR_937491.1:n.1087-40G>C
XR_937491.3:n.1055-40G>C