Canonical Allele Identifier: CA364720026

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2563375
• ClinVar RCV Id: RCV003301536
• dbSNP Id: rs1195719184
• gnomAD v2: 6-74310126-G-A
• gnomAD v3: 6-73600403-G-A
• gnomAD v4: 6-73600403-G-A
• MyVariant Identifiers: chr6:g.74310126G>A (hg19) ; chr6:g.73600403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600403G>A , CM000668.2:g.73600403G>A	GRCh38
NC_000006.11:g.74310126G>A , CM000668.1:g.74310126G>A	GRCh37
NC_000006.10:g.74366847G>A	NCBI36
NG_008272.1:g.58612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1298C>T MANE Select	ENSP00000348019.5:p.Ala433Val
ENST00000355773.5:c.1298C>T	ENSP00000348019.5:p.Ala433Val
NM_012434.4:c.1298C>T	NP_036566.1:p.Ala433Val
XM_005248710.2:c.1247C>T	XP_005248767.1:p.Ala416Val
XM_005248711.1:c.1100C>T	XP_005248768.1:p.Ala367Val
XM_011535750.1:c.1150C>T	XP_011534052.1:p.Pro384Ser
NM_012434.5:c.1298C>T MANE Select	NP_036566.1:p.Ala433Val
NM_001382629.1:c.1067C>T	NP_001369558.1:p.Ala356Val
NM_001382630.1:c.1260-5189C>T	NP_001369559.1:n.1260-5189C>T
NM_001382631.1:c.1319C>T	NP_001369560.1:p.Ala440Val
NM_001382632.1:c.1211C>T	NP_001369561.1:p.Ala404Val
NM_001382633.1:c.1298C>T	NP_001369562.1:p.Ala433Val
NM_001382634.1:c.1139C>T	NP_001369563.1:p.Ala380Val
NM_001382635.1:c.1295C>T	NP_001369564.1:p.Ala432Val
NM_001382636.1:c.980C>T	NP_001369565.1:p.Ala327Val