Canonical Allele Identifier: CA1219606

Gene: LMX1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165203979A>G , CM000663.2:g.165203979A>G	GRCh38
NC_000001.10:g.165173216A>G , CM000663.1:g.165173216A>G	GRCh37
NC_000001.9:g.163439840A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_177398.4:c.1050T>C MANE Select	NP_796372.1:p.Asp350=
ENST00000342310.7:c.1050T>C MANE Select	ENSP00000340226.3:p.Asp350=
NM_001174069.1:c.1050T>C	NP_001167540.1:p.Asp350=
NM_001174069.2:c.1050T>C	NP_001167540.1:p.Asp350=
NM_177398.3:c.1050T>C	NP_796372.1:p.Asp350=
ENST00000294816.6:c.1050T>C	ENSP00000294816.2:p.Asp350=
ENST00000367893.4:c.1050T>C	ENSP00000356868.4:p.Asp350=
ENST00000489443.2:n.684T>C
XM_011509538.1:c.810T>C	XP_011507840.1:p.Asp270=
XM_011509538.3:c.810T>C	XP_011507840.1:p.Asp270=
XM_011509539.1:c.798T>C	XP_011507841.1:p.Asp266=