Canonical Allele Identifier: CA10741948
Gene: LMX1A HGNC NCBI
LMX1A-AS2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.165207796G>A , CM000663.2:g.165207796G>A GRCh38
NC_000001.10:g.165177033G>A , CM000663.1:g.165177033G>A GRCh37
NC_000001.9:g.163443657G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000294816.6:c.817+267C>T (LMX1A) ENSP00000294816.2:n.817+267C>T
ENST00000342310.7:c.817+267C>T (LMX1A) MANE Select ENSP00000340226.3:n.817+267C>T
ENST00000367893.4:c.817+267C>T (LMX1A) ENSP00000356868.4:n.817+267C>T
ENST00000489443.2:n.319-182C>T (LMX1A)
NM_001174069.1:c.817+267C>T (LMX1A) NP_001167540.1:n.817+267C>T
NM_177398.3:c.817+267C>T (LMX1A) NP_796372.1:n.817+267C>T
XM_011509538.1:c.577+267C>T (LMX1A) XP_011507840.1:n.577+267C>T
XM_011509539.1:c.565+267C>T (LMX1A) XP_011507841.1:n.565+267C>T
XM_011509540.1:c.818-182C>T (LMX1A) XP_011507842.1:n.818-182C>T
XR_922233.1:n.249G>A (LMX1A-AS2)
XR_922234.1:n.433G>A (LMX1A-AS2)
XR_922235.1:n.250G>A (LMX1A-AS2)
XM_011509538.3:c.577+267C>T (LMX1A) XP_011507840.1:n.577+267C>T
XM_011509540.2:c.818-182C>T (LMX1A) XP_011507842.1:n.818-182C>T
XR_001738275.1:n.248G>A (LMX1A-AS2)
XR_922233.2:n.246G>A (LMX1A-AS2)
XR_922235.2:n.247G>A (LMX1A-AS2)
NM_177398.4:c.817+267C>T (LMX1A) MANE Select NP_796372.1:n.817+267C>T
NM_001174069.2:c.817+267C>T (LMX1A) NP_001167540.1:n.817+267C>T
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