Canonical Allele Identifier: CA375740683
Gene: SLC34A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137236070G>T , CM000671.2:g.137236070G>T GRCh38
NC_000009.11:g.140130522G>T , CM000671.1:g.140130522G>T GRCh37
NC_000009.10:g.139250343G>T NCBI36
NG_017008.1:g.10314G>T
NG_017008.2:g.10170G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673835.1:c.1454G>T MANE Select ENSP00000501114.1:p.Arg485Leu
ENST00000361134.2:c.1454G>T ENSP00000355353.2:p.Arg485Leu
ENST00000538474.5:c.1454G>T ENSP00000442397.1:p.Arg485Leu
NM_001177316.1:c.1454G>T NP_001170787.1:p.Arg485Leu
NM_001177317.1:c.1454G>T NP_001170788.1:p.Arg485Leu
NM_080877.2:c.1454G>T NP_543153.1:p.Arg485Leu
XM_011518262.1:c.*13G>T XP_011516564.1:n.*13G>T
XM_017014291.1:c.*13G>T XP_016869780.1:n.*13G>T
XM_017014292.1:c.1454G>T XP_016869781.1:p.Arg485Leu
NM_001177316.2:c.1454G>T MANE Select NP_001170787.2:p.Arg485Leu
NM_001177317.2:c.1454G>T NP_001170788.2:p.Arg485Leu
NM_080877.3:c.1454G>T NP_543153.2:p.Arg485Leu