Canonical Allele Identifier: CA375740814
Gene: SLC34A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137236105C>A , CM000671.2:g.137236105C>A GRCh38
NC_000009.11:g.140130557C>A , CM000671.1:g.140130557C>A GRCh37
NC_000009.10:g.139250378C>A NCBI36
NG_017008.1:g.10349C>A
NG_017008.2:g.10205C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673835.1:c.1489C>A MANE Select ENSP00000501114.1:p.Leu497Met
ENST00000361134.2:c.1489C>A ENSP00000355353.2:p.Leu497Met
ENST00000538474.5:c.1489C>A ENSP00000442397.1:p.Leu497Met
NM_001177316.1:c.1489C>A NP_001170787.1:p.Leu497Met
NM_001177317.1:c.1489C>A NP_001170788.1:p.Leu497Met
NM_080877.2:c.1489C>A NP_543153.1:p.Leu497Met
XM_017014291.1:c.*48C>A XP_016869780.1:n.*48C>A
XM_017014292.1:c.1489C>A XP_016869781.1:p.Leu497Met
NM_001177316.2:c.1489C>A MANE Select NP_001170787.2:p.Leu497Met
NM_001177317.2:c.1489C>A NP_001170788.2:p.Leu497Met
NM_080877.3:c.1489C>A NP_543153.2:p.Leu497Met