Canonical Allele Identifier: CA1219790

Gene: LMX1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165249442C>T , CM000663.2:g.165249442C>T	GRCh38
NC_000001.10:g.165218679C>T , CM000663.1:g.165218679C>T	GRCh37
NC_000001.9:g.163485303C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_177398.4:c.462G>A MANE Select	NP_796372.1:p.Leu154=
ENST00000342310.7:c.462G>A MANE Select	ENSP00000340226.3:p.Leu154=
NM_001174069.1:c.462G>A	NP_001167540.1:p.Leu154=
NM_001174069.2:c.462G>A	NP_001167540.1:p.Leu154=
NM_177398.3:c.462G>A	NP_796372.1:p.Leu154=
ENST00000294816.6:c.462G>A	ENSP00000294816.2:p.Leu154=
ENST00000367893.4:c.462G>A	ENSP00000356868.4:p.Leu154=
XM_011509538.1:c.222G>A	XP_011507840.1:p.Leu74=
XM_011509538.3:c.222G>A	XP_011507840.1:p.Leu74=
XM_011509539.1:c.210G>A	XP_011507841.1:p.Leu70=
XM_011509540.1:c.462G>A	XP_011507842.1:p.Leu154=
XM_011509540.2:c.462G>A	XP_011507842.1:p.Leu154=
XR_922231.1:n.105+2033C>T