Canonical Allele Identifier: CA343474319

Gene: LMX1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165249615A>T , CM000663.2:g.165249615A>T	GRCh38
NC_000001.10:g.165218852A>T , CM000663.1:g.165218852A>T	GRCh37
NC_000001.9:g.163485476A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_177398.4:c.289T>A MANE Select	NP_796372.1:p.Cys97Ser
ENST00000342310.7:c.289T>A MANE Select	ENSP00000340226.3:p.Cys97Ser
NM_001174069.1:c.289T>A	NP_001167540.1:p.Cys97Ser
NM_001174069.2:c.289T>A	NP_001167540.1:p.Cys97Ser
NM_177398.3:c.289T>A	NP_796372.1:p.Cys97Ser
ENST00000294816.6:c.289T>A	ENSP00000294816.2:p.Cys97Ser
ENST00000367893.4:c.289T>A	ENSP00000356868.4:p.Cys97Ser
XM_011509538.1:c.49T>A	XP_011507840.1:p.Cys17Ser
XM_011509538.3:c.49T>A	XP_011507840.1:p.Cys17Ser
XM_011509539.1:c.37T>A	XP_011507841.1:p.Cys13Ser
XM_011509540.1:c.289T>A	XP_011507842.1:p.Cys97Ser
XM_011509540.2:c.289T>A	XP_011507842.1:p.Cys97Ser
XR_922231.1:n.105+2206A>T