Canonical Allele Identifier: CA31864689

Gene: LMX1A

Linked Data

• dbSNP Id: rs993799369
• gnomAD v3: 1-165318873-G-A
• gnomAD v4: 1-165318873-G-A
• MyVariant Identifiers: chr1:g.165288110G>A (hg19) ; chr1:g.165318873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165318873G>A , CM000663.2:g.165318873G>A	GRCh38
NC_000001.10:g.165288110G>A , CM000663.1:g.165288110G>A	GRCh37
NC_000001.9:g.163554734G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294816.6:c.263+34203C>T	ENSP00000294816.2:n.263+34203C>T
ENST00000342310.7:c.263+34203C>T MANE Select	ENSP00000340226.3:n.263+34203C>T
ENST00000367893.4:c.263+34203C>T	ENSP00000356868.4:n.263+34203C>T
NM_001174069.1:c.263+34203C>T	NP_001167540.1:n.263+34203C>T
NM_177398.3:c.263+34203C>T	NP_796372.1:n.263+34203C>T
XM_011509540.1:c.263+34203C>T	XP_011507842.1:n.263+34203C>T
XM_011509540.2:c.263+34203C>T	XP_011507842.1:n.263+34203C>T
NM_177398.4:c.263+34203C>T MANE Select	NP_796372.1:n.263+34203C>T
NM_001174069.2:c.263+34203C>T	NP_001167540.1:n.263+34203C>T