Canonical Allele Identifier: CA364716453

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73636636-C-T
• MyVariant Identifiers: chr6:g.74346359C>T (hg19) ; chr6:g.73636636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73636636C>T , CM000668.2:g.73636636C>T	GRCh38
NC_000006.11:g.74346359C>T , CM000668.1:g.74346359C>T	GRCh37
NC_000006.10:g.74403080C>T	NCBI36
NG_008272.1:g.22379G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.685G>A MANE Select	ENSP00000348019.5:p.Val229Ile
ENST00000355773.5:c.685G>A	ENSP00000348019.5:p.Val229Ile
ENST00000481996.1:n.451G>A
NM_012434.4:c.685G>A	NP_036566.1:p.Val229Ile
XM_005248710.2:c.634G>A	XP_005248767.1:p.Val212Ile
XM_005248711.1:c.487G>A	XP_005248768.1:p.Val163Ile
XM_011535750.1:c.685G>A	XP_011534052.1:p.Val229Ile
XM_011535751.1:c.685G>A	XP_011534053.1:p.Val229Ile
NM_012434.5:c.685G>A MANE Select	NP_036566.1:p.Val229Ile
NM_001382629.1:c.454G>A	NP_001369558.1:p.Val152Ile
NM_001382630.1:c.685G>A	NP_001369559.1:p.Val229Ile
NM_001382631.1:c.706G>A	NP_001369560.1:p.Val236Ile
NM_001382632.1:c.614-1136G>A	NP_001369561.1:n.614-1136G>A
NM_001382633.1:c.685G>A	NP_001369562.1:p.Val229Ile
NM_001382634.1:c.685G>A	NP_001369563.1:p.Val229Ile
NM_001382635.1:c.682G>A	NP_001369564.1:p.Val228Ile
NM_001382636.1:c.383-1136G>A	NP_001369565.1:n.383-1136G>A