Canonical Allele Identifier: CA375740764

Gene: SLC34A3

Linked Data

• MyVariant Identifiers: chr9:g.140130543T>A (hg19) ; chr9:g.137236091T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137236091T>A , CM000671.2:g.137236091T>A	GRCh38
NC_000009.11:g.140130543T>A , CM000671.1:g.140130543T>A	GRCh37
NC_000009.10:g.139250364T>A	NCBI36
NG_017008.1:g.10335T>A
NG_017008.2:g.10191T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673835.1:c.1475T>A MANE Select	ENSP00000501114.1:p.Leu492Gln
ENST00000361134.2:c.1475T>A	ENSP00000355353.2:p.Leu492Gln
ENST00000538474.5:c.1475T>A	ENSP00000442397.1:p.Leu492Gln
NM_001177316.1:c.1475T>A	NP_001170787.1:p.Leu492Gln
NM_001177317.1:c.1475T>A	NP_001170788.1:p.Leu492Gln
NM_080877.2:c.1475T>A	NP_543153.1:p.Leu492Gln
XM_017014291.1:c.*34T>A	XP_016869780.1:n.*34T>A
XM_017014292.1:c.1475T>A	XP_016869781.1:p.Leu492Gln
NM_001177316.2:c.1475T>A MANE Select	NP_001170787.2:p.Leu492Gln
NM_001177317.2:c.1475T>A	NP_001170788.2:p.Leu492Gln
NM_080877.3:c.1475T>A	NP_543153.2:p.Leu492Gln