Canonical Allele Identifier: CA1879479015
Community Standard Title: NM_001174147.2(LMX1B):c.807C= (p.Asn269=)
Gene: LMX1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126693589C= , CM000671.2:g.126693589C= GRCh38
NC_000009.11:g.129455868C= , CM000671.1:g.129455868C= GRCh37
NC_000009.10:g.128495689C= NCBI36
NG_017039.1:g.84147C=

Transcript Alleles

HGVS Amino-acid Change
NM_001174147.2:c.807C= MANE Select NP_001167618.1:p.Asn269=
ENST00000373474.9:c.807C= MANE Select ENSP00000362573.3:p.Asn269=
NM_001174146.1:c.807C= NP_001167617.1:p.Asn269=
NM_001174146.2:c.807C= NP_001167617.1:p.Asn269=
NM_001174147.1:c.807C= NP_001167618.1:p.Asn269=
NM_002316.3:c.807C= NP_002307.2:p.Asn269=
NM_002316.4:c.807C= NP_002307.2:p.Asn269=
ENST00000355497.10:c.807C= ENSP00000347684.5:p.Asn269=
ENST00000355497.9:c.807C= ENSP00000347684.5:p.Asn269=
ENST00000373474.8:c.807C= ENSP00000362573.3:p.Asn269=
ENST00000526117.5:c.807C= ENSP00000436930.1:p.Asn269=
ENST00000526117.6:c.807C= ENSP00000436930.1:p.Asn269=
ENST00000561065.1:c.738C= ENSP00000453580.1:p.Asn246=