Canonical Allele Identifier: CA374909879

Gene: LMX1B

Linked Data

• gnomAD v4: 9-126615400-C-T
• MyVariant Identifiers: chr9:g.129377679C>T (hg19) ; chr9:g.126615400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615400C>T , CM000671.2:g.126615400C>T	GRCh38
NC_000009.11:g.129377679C>T , CM000671.1:g.129377679C>T	GRCh37
NC_000009.10:g.128417500C>T	NCBI36
NG_017039.1:g.5958C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.157C>T	ENSP00000347684.5:p.Pro53Ser
ENST00000373474.9:c.157C>T MANE Select	ENSP00000362573.3:p.Pro53Ser
ENST00000526117.6:c.157C>T	ENSP00000436930.1:p.Pro53Ser
ENST00000355497.9:c.157C>T	ENSP00000347684.5:p.Pro53Ser
ENST00000373474.8:c.157C>T	ENSP00000362573.3:p.Pro53Ser
ENST00000526117.5:c.157C>T	ENSP00000436930.1:p.Pro53Ser
ENST00000561065.1:c.88C>T	ENSP00000453580.1:p.Pro30Ser
NM_001174146.1:c.157C>T	NP_001167617.1:p.Pro53Ser
NM_001174147.1:c.157C>T	NP_001167618.1:p.Pro53Ser
NM_002316.3:c.157C>T	NP_002307.2:p.Pro53Ser
NM_001174146.2:c.157C>T	NP_001167617.1:p.Pro53Ser
NM_001174147.2:c.157C>T MANE Select	NP_001167618.1:p.Pro53Ser
NM_002316.4:c.157C>T	NP_002307.2:p.Pro53Ser