Canonical Allele Identifier: CA375741664
Gene: SLC34A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137236276G>C , CM000671.2:g.137236276G>C GRCh38
NC_000009.11:g.140130728G>C , CM000671.1:g.140130728G>C GRCh37
NC_000009.10:g.139250549G>C NCBI36
NG_017008.1:g.10520G>C
NG_017008.2:g.10376G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673835.1:c.1660G>C MANE Select ENSP00000501114.1:p.Val554Leu
ENST00000361134.2:c.1660G>C ENSP00000355353.2:p.Val554Leu
ENST00000538474.5:c.1660G>C ENSP00000442397.1:p.Val554Leu
NM_001177316.1:c.1660G>C NP_001170787.1:p.Val554Leu
NM_001177317.1:c.1660G>C NP_001170788.1:p.Val554Leu
NM_080877.2:c.1660G>C NP_543153.1:p.Val554Leu
XM_017014292.1:c.1660G>C XP_016869781.1:p.Val554Leu
NM_001177316.2:c.1660G>C MANE Select NP_001170787.2:p.Val554Leu
NM_001177317.2:c.1660G>C NP_001170788.2:p.Val554Leu
NM_080877.3:c.1660G>C NP_543153.2:p.Val554Leu