Canonical Allele Identifier: CA2545257195
Gene: LMX1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.165319128A>T , CM000663.2:g.165319128A>T GRCh38
NC_000001.10:g.165288365A>T , CM000663.1:g.165288365A>T GRCh37
NC_000001.9:g.163554989A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000294816.6:c.263+33948T>A ENSP00000294816.2:n.263+33948T>A
ENST00000342310.7:c.263+33948T>A MANE Select ENSP00000340226.3:n.263+33948T>A
ENST00000367893.4:c.263+33948T>A ENSP00000356868.4:n.263+33948T>A
NM_001174069.1:c.263+33948T>A NP_001167540.1:n.263+33948T>A
NM_177398.3:c.263+33948T>A NP_796372.1:n.263+33948T>A
XM_011509540.1:c.263+33948T>A XP_011507842.1:n.263+33948T>A
XM_011509540.2:c.263+33948T>A XP_011507842.1:n.263+33948T>A
NM_177398.4:c.263+33948T>A MANE Select NP_796372.1:n.263+33948T>A
NM_001174069.2:c.263+33948T>A NP_001167540.1:n.263+33948T>A
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