Canonical Allele Identifier: CA10976442
Community Standard Title: NM_000081.4(LYST):c.9315+52C>A
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235723976G>T , CM000663.2:g.235723976G>T GRCh38
NC_000001.10:g.235887276G>T , CM000663.1:g.235887276G>T GRCh37
NC_000001.9:g.233953899G>T NCBI36
NG_007397.1:g.164665C>A , LRG_143:g.164665C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000081.4:c.9315+52C>A MANE Select NP_000072.2:n.9315+52C>A
ENST00000389793.7:c.9315+52C>A MANE Select ENSP00000374443.2:n.9315+52C>A
NM_000081.3:c.9315+52C>A , LRG_143t1:c.9315+52C>A NP_000072.2:n.9315+52C>A
NM_001301365.1:c.9315+52C>A , LRG_143t2:c.9315+52C>A NP_001288294.1:n.9315+52C>A
ENST00000389793.6:c.9315+52C>A ENSP00000374443.2:n.9315+52C>A
ENST00000389794.7:c.*4739+52C>A ENSP00000374444.4:n.*4739+52C>A
ENST00000461526.2:c.4843+52C>A ENSP00000513165.1:n.4843+52C>A
ENST00000473037.5:n.4305+52C>A
ENST00000475277.1:n.181+52C>A
ENST00000475277.2:c.1410+52C>A ENSP00000513164.1:n.1410+52C>A
ENST00000697178.1:c.*4739+52C>A ENSP00000513163.1:n.*4739+52C>A
ENST00000697236.1:c.3024+52C>A ENSP00000513203.1:n.3024+52C>A
ENST00000697237.1:c.271+52C>A
ENST00000697240.1:c.1449+52C>A ENSP00000513205.1:n.1449+52C>A
ENST00000697241.1:c.3795+52C>A ENSP00000513206.1:n.3795+52C>A
XM_011544031.1:c.9477+52C>A XP_011542333.1:n.9477+52C>A
XM_011544032.1:c.9477+52C>A XP_011542334.1:n.9477+52C>A
XM_011544033.1:c.9477+52C>A XP_011542335.1:n.9477+52C>A
XM_011544033.2:c.9477+52C>A XP_011542335.1:n.9477+52C>A
XM_011544034.1:c.9339+52C>A XP_011542336.1:n.9339+52C>A
XM_011544035.1:c.9477+52C>A XP_011542337.1:n.9477+52C>A
XM_011544035.2:c.9477+52C>A XP_011542337.1:n.9477+52C>A
XM_011544036.1:c.7140+52C>A XP_011542338.1:n.7140+52C>A
XM_011544036.2:c.7140+52C>A XP_011542338.1:n.7140+52C>A
XM_017000150.1:c.9477+52C>A XP_016855639.1:n.9477+52C>A
XR_001736947.1:n.10350+52C>A