Canonical Allele Identifier: CA526927383

Gene: LMX1A

Linked Data

• dbSNP Id: rs1431373928
• gnomAD v2: 1-165288427-T-A
• gnomAD v3: 1-165319190-T-A
• gnomAD v4: 1-165319190-T-A
• MyVariant Identifiers: chr1:g.165288427T>A (hg19) ; chr1:g.165319190T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165319190T>A , CM000663.2:g.165319190T>A	GRCh38
NC_000001.10:g.165288427T>A , CM000663.1:g.165288427T>A	GRCh37
NC_000001.9:g.163555051T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000294816.6:c.263+33886A>T	ENSP00000294816.2:n.263+33886A>T
ENST00000342310.7:c.263+33886A>T MANE Select	ENSP00000340226.3:n.263+33886A>T
ENST00000367893.4:c.263+33886A>T	ENSP00000356868.4:n.263+33886A>T
NM_001174069.1:c.263+33886A>T	NP_001167540.1:n.263+33886A>T
NM_177398.3:c.263+33886A>T	NP_796372.1:n.263+33886A>T
XM_011509540.1:c.263+33886A>T	XP_011507842.1:n.263+33886A>T
XM_011509540.2:c.263+33886A>T	XP_011507842.1:n.263+33886A>T
NM_177398.4:c.263+33886A>T MANE Select	NP_796372.1:n.263+33886A>T
NM_001174069.2:c.263+33886A>T	NP_001167540.1:n.263+33886A>T