Canonical Allele Identifier: CA590581222

Gene: LMX1B

Linked Data

• dbSNP Id: rs1423146458
• gnomAD v2: 9-129462286-C-T
• gnomAD v3: 9-126700007-C-T
• gnomAD v4: 9-126700007-C-T
• MyVariant Identifiers: chr9:g.129462286C>T (hg19) ; chr9:g.126700007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126700007C>T , CM000671.2:g.126700007C>T	GRCh38
NC_000009.11:g.129462286C>T , CM000671.1:g.129462286C>T	GRCh37
NC_000009.10:g.128502107C>T	NCBI36
NG_017039.1:g.90565C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.*3556C>T	ENSP00000347684.5:n.*3556C>T
ENST00000373474.9:c.*3556C>T MANE Select	ENSP00000362573.3:n.*3556C>T
ENST00000526117.6:c.*3556C>T	ENSP00000436930.1:n.*3556C>T
ENST00000355497.9:c.*3556C>T	ENSP00000347684.5:n.*3556C>T
ENST00000373474.8:c.*3556C>T	ENSP00000362573.3:n.*3556C>T
NM_001174146.1:c.*3556C>T	NP_001167617.1:n.*3556C>T
NM_001174147.1:c.*3556C>T	NP_001167618.1:n.*3556C>T
NM_002316.3:c.*3556C>T	NP_002307.2:n.*3556C>T
NM_001174146.2:c.*3556C>T	NP_001167617.1:n.*3556C>T
NM_001174147.2:c.*3556C>T MANE Select	NP_001167618.1:n.*3556C>T
NM_002316.4:c.*3556C>T	NP_002307.2:n.*3556C>T