Canonical Allele Identifier: CA5242462
Gene: LMX1B HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.126693830C>T
GRCh37 chr9:g.129456109C>T
gnomAD v2:
9:129456109 C / T
gnomAD v3:
9:126693830 C / T
gnomAD v4:
chr9-126693830-C-T
Joint Max Group AF 0.00298479 (AFR)
Genomes Max Group AF 0.00292087 (AFR)
Exomes Max Group AF 0.00271609 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126693830C>T , CM000671.2:g.126693830C>T GRCh38
NC_000009.11:g.129456109C>T , CM000671.1:g.129456109C>T GRCh37
NC_000009.10:g.128495930C>T NCBI36
NG_017039.1:g.84388C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355497.10:c.904C>T ENSP00000347684.5:p.Gln302Ter
ENST00000373474.9:c.886+18C>T MANE Select ENSP00000362573.3:n.886+18C>T
ENST00000526117.6:c.886+18C>T ENSP00000436930.1:n.886+18C>T
ENST00000355497.9:c.904C>T ENSP00000347684.5:p.Gln302Ter
ENST00000373474.8:c.886+18C>T ENSP00000362573.3:n.886+18C>T
ENST00000526117.5:c.886+18C>T ENSP00000436930.1:n.886+18C>T
ENST00000561065.1:c.835C>T ENSP00000453580.1:p.Gln279Ter
NM_001174146.1:c.904C>T NP_001167617.1:p.Gln302Ter
NM_001174147.1:c.886+18C>T NP_001167618.1:n.886+18C>T
NM_002316.3:c.886+18C>T NP_002307.2:n.886+18C>T
NM_001174146.2:c.904C>T NP_001167617.1:p.Gln302Ter
NM_001174147.2:c.886+18C>T MANE Select NP_001167618.1:n.886+18C>T
NM_002316.4:c.886+18C>T NP_002307.2:n.886+18C>T
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