Canonical Allele Identifier: CA467136406
Gene: LMX1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.129377825G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126615546G>C , CM000671.2:g.126615546G>C GRCh38
NC_000009.11:g.129377825G>C , CM000671.1:g.129377825G>C GRCh37
NC_000009.10:g.128417646G>C NCBI36
NG_017039.1:g.6104G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355497.10:c.303G>C ENSP00000347684.5:p.Leu101=
ENST00000373474.9:c.303G>C MANE Select ENSP00000362573.3:p.Leu101=
ENST00000526117.6:c.303G>C ENSP00000436930.1:p.Leu101=
ENST00000355497.9:c.303G>C ENSP00000347684.5:p.Leu101=
ENST00000373474.8:c.303G>C ENSP00000362573.3:p.Leu101=
ENST00000526117.5:c.303G>C ENSP00000436930.1:p.Leu101=
ENST00000561065.1:c.234G>C ENSP00000453580.1:p.Leu78=
NM_001174146.1:c.303G>C NP_001167617.1:p.Leu101=
NM_001174147.1:c.303G>C NP_001167618.1:p.Leu101=
NM_002316.3:c.303G>C NP_002307.2:p.Leu101=
NM_001174146.2:c.303G>C NP_001167617.1:p.Leu101=
NM_001174147.2:c.303G>C MANE Select NP_001167618.1:p.Leu101=
NM_002316.4:c.303G>C NP_002307.2:p.Leu101=