Canonical Allele Identifier: CA203496

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 198552
• ClinVar RCV Id: RCV000179934 ; RCV000301477 ; RCV001095227
• dbSNP Id: rs16883930
• ExAC: 6:74331619 C / T
• gnomAD v2: 6-74331619-C-T
• gnomAD v3: 6-73621896-C-T
• gnomAD v4: 6-73621896-C-T
• MyVariant Identifiers: chr6:g.74331619C>T (hg19) ; chr6:g.73621896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621896C>T , CM000668.2:g.73621896C>T	GRCh38
NC_000006.11:g.74331619C>T , CM000668.1:g.74331619C>T	GRCh37
NC_000006.10:g.74388340C>T	NCBI36
NG_008272.1:g.37119G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.886G>A MANE Select	ENSP00000348019.5:p.Val296Ile
ENST00000355773.5:c.886G>A	ENSP00000348019.5:p.Val296Ile
NM_012434.4:c.886G>A	NP_036566.1:p.Val296Ile
XM_005248710.2:c.835G>A	XP_005248767.1:p.Val279Ile
XM_005248711.1:c.688G>A	XP_005248768.1:p.Val230Ile
XM_011535750.1:c.886G>A	XP_011534052.1:p.Val296Ile
NM_012434.5:c.886G>A MANE Select	NP_036566.1:p.Val296Ile
NM_001382629.1:c.655G>A	NP_001369558.1:p.Val219Ile
NM_001382630.1:c.886G>A	NP_001369559.1:p.Val296Ile
NM_001382631.1:c.907G>A	NP_001369560.1:p.Val303Ile
NM_001382632.1:c.799G>A	NP_001369561.1:p.Val267Ile
NM_001382633.1:c.886G>A	NP_001369562.1:p.Val296Ile
NM_001382634.1:c.820-6449G>A	NP_001369563.1:n.820-6449G>A
NM_001382635.1:c.883G>A	NP_001369564.1:p.Val295Ile
NM_001382636.1:c.568G>A	NP_001369565.1:p.Val190Ile