Canonical Allele Identifier: CA1219810

Gene: LMX1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165249555G>A , CM000663.2:g.165249555G>A	GRCh38
NC_000001.10:g.165218792G>A , CM000663.1:g.165218792G>A	GRCh37
NC_000001.9:g.163485416G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_177398.4:c.349C>T MANE Select	NP_796372.1:p.Leu117=
ENST00000342310.7:c.349C>T MANE Select	ENSP00000340226.3:p.Leu117=
NM_001174069.1:c.349C>T	NP_001167540.1:p.Leu117=
NM_001174069.2:c.349C>T	NP_001167540.1:p.Leu117=
NM_177398.3:c.349C>T	NP_796372.1:p.Leu117=
ENST00000294816.6:c.349C>T	ENSP00000294816.2:p.Leu117=
ENST00000367893.4:c.349C>T	ENSP00000356868.4:p.Leu117=
XM_011509538.1:c.109C>T	XP_011507840.1:p.Leu37=
XM_011509538.3:c.109C>T	XP_011507840.1:p.Leu37=
XM_011509539.1:c.97C>T	XP_011507841.1:p.Leu33=
XM_011509540.1:c.349C>T	XP_011507842.1:p.Leu117=
XM_011509540.2:c.349C>T	XP_011507842.1:p.Leu117=
XR_922231.1:n.105+2146G>A