Canonical Allele Identifier: CA364720823

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 553387
• ClinVar RCV Id: RCV000668821
• dbSNP Id: rs146095590
• gnomAD v4: 6-73610399-C-A
• MyVariant Identifiers: chr6:g.74320122C>A (hg19) ; chr6:g.73610399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610399C>A , CM000668.2:g.73610399C>A	GRCh38
NC_000006.11:g.74320122C>A , CM000668.1:g.74320122C>A	GRCh37
NC_000006.10:g.74376843C>A	NCBI36
NG_008272.1:g.48616G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1259+1G>T MANE Select	ENSP00000348019.5:n.1259+1G>T
ENST00000355773.5:c.1259+1G>T	ENSP00000348019.5:n.1259+1G>T
NM_012434.4:c.1259+1G>T	NP_036566.1:n.1259+1G>T
XM_005248710.2:c.1208+1G>T	XP_005248767.1:n.1208+1G>T
XM_005248711.1:c.1061+1G>T	XP_005248768.1:n.1061+1G>T
XM_011535750.1:c.1111+4916G>T	XP_011534052.1:n.1111+4916G>T
NM_012434.5:c.1259+1G>T MANE Select	NP_036566.1:n.1259+1G>T
NM_001382629.1:c.1028+1G>T	NP_001369558.1:n.1028+1G>T
NM_001382630.1:c.1259+1G>T	NP_001369559.1:n.1259+1G>T
NM_001382631.1:c.1280+1G>T	NP_001369560.1:n.1280+1G>T
NM_001382632.1:c.1172+1G>T	NP_001369561.1:n.1172+1G>T
NM_001382633.1:c.1259+1G>T	NP_001369562.1:n.1259+1G>T
NM_001382634.1:c.1100+1G>T	NP_001369563.1:n.1100+1G>T
NM_001382635.1:c.1256+1G>T	NP_001369564.1:n.1256+1G>T
NM_001382636.1:c.941+1G>T	NP_001369565.1:n.941+1G>T