Canonical Allele Identifier: CA375741014

Gene: SLC34A3

Linked Data

• dbSNP Id: rs1836582714
• gnomAD v4: 9-137236171-G-T
• MyVariant Identifiers: chr9:g.140130623G>T (hg19) ; chr9:g.137236171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137236171G>T , CM000671.2:g.137236171G>T	GRCh38
NC_000009.11:g.140130623G>T , CM000671.1:g.140130623G>T	GRCh37
NC_000009.10:g.139250444G>T	NCBI36
NG_017008.1:g.10415G>T
NG_017008.2:g.10271G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673835.1:c.1555G>T MANE Select	ENSP00000501114.1:p.Gly519Cys
ENST00000361134.2:c.1555G>T	ENSP00000355353.2:p.Gly519Cys
ENST00000538474.5:c.1555G>T	ENSP00000442397.1:p.Gly519Cys
NM_001177316.1:c.1555G>T	NP_001170787.1:p.Gly519Cys
NM_001177317.1:c.1555G>T	NP_001170788.1:p.Gly519Cys
NM_080877.2:c.1555G>T	NP_543153.1:p.Gly519Cys
XM_017014292.1:c.1555G>T	XP_016869781.1:p.Gly519Cys
NM_001177316.2:c.1555G>T MANE Select	NP_001170787.2:p.Gly519Cys
NM_001177317.2:c.1555G>T	NP_001170788.2:p.Gly519Cys
NM_080877.3:c.1555G>T	NP_543153.2:p.Gly519Cys