Canonical Allele Identifier: CA526927369

Gene: LMX1A

Linked Data

• dbSNP Id: rs1557883336
• gnomAD v2: 1-165288280-C-CA
• gnomAD v3: 1-165319043-C-CA
• gnomAD v4: 1-165319043-C-CA
• MyVariant Identifiers: chr1:g.165288280_165288281insA (hg19) ; chr1:g.165319043_165319044insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165319043_165319044insA , CM000663.2:g.165319043_165319044insA	GRCh38
NC_000001.10:g.165288280_165288281insA , CM000663.1:g.165288280_165288281insA	GRCh37
NC_000001.9:g.163554904_163554905insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294816.6:c.263+34032_263+34033insT	ENSP00000294816.2:n.263+34032_263+34033insT
ENST00000342310.7:c.263+34032_263+34033insT MANE Select	ENSP00000340226.3:n.263+34032_263+34033insT
ENST00000367893.4:c.263+34032_263+34033insT	ENSP00000356868.4:n.263+34032_263+34033insT
NM_001174069.1:c.263+34032_263+34033insT	NP_001167540.1:n.263+34032_263+34033insT
NM_177398.3:c.263+34032_263+34033insT	NP_796372.1:n.263+34032_263+34033insT
XM_011509540.1:c.263+34032_263+34033insT	XP_011507842.1:n.263+34032_263+34033insT
XM_011509540.2:c.263+34032_263+34033insT	XP_011507842.1:n.263+34032_263+34033insT
NM_177398.4:c.263+34032_263+34033insT MANE Select	NP_796372.1:n.263+34032_263+34033insT
NM_001174069.2:c.263+34032_263+34033insT	NP_001167540.1:n.263+34032_263+34033insT