Canonical Allele Identifier: CA364718237

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1432042412
• gnomAD v2: 6-74351581-T-C
• gnomAD v4: 6-73641858-T-C
• MyVariant Identifiers: chr6:g.74351581T>C (hg19) ; chr6:g.73641858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641858T>C , CM000668.2:g.73641858T>C	GRCh38
NC_000006.11:g.74351581T>C , CM000668.1:g.74351581T>C	GRCh37
NC_000006.10:g.74408302T>C	NCBI36
NG_008272.1:g.17157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.358A>G MANE Select	ENSP00000348019.5:p.Ile120Val
ENST00000355773.5:c.358A>G	ENSP00000348019.5:p.Ile120Val
ENST00000481996.1:n.124A>G
NM_012434.4:c.358A>G	NP_036566.1:p.Ile120Val
XM_005248710.2:c.307A>G	XP_005248767.1:p.Ile103Val
XM_005248711.1:c.160A>G	XP_005248768.1:p.Ile54Val
XM_011535750.1:c.358A>G	XP_011534052.1:p.Ile120Val
XM_011535751.1:c.358A>G	XP_011534053.1:p.Ile120Val
NM_012434.5:c.358A>G MANE Select	NP_036566.1:p.Ile120Val
NM_001382629.1:c.127A>G	NP_001369558.1:p.Ile43Val
NM_001382630.1:c.358A>G	NP_001369559.1:p.Ile120Val
NM_001382631.1:c.379A>G	NP_001369560.1:p.Ile127Val
NM_001382632.1:c.358A>G	NP_001369561.1:p.Ile120Val
NM_001382633.1:c.358A>G	NP_001369562.1:p.Ile120Val
NM_001382634.1:c.358A>G	NP_001369563.1:p.Ile120Val
NM_001382635.1:c.358A>G	NP_001369564.1:p.Ile120Val
NM_001382636.1:c.127A>G	NP_001369565.1:p.Ile43Val