Canonical Allele Identifier: CA140963041

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2880231
• ClinVar RCV Id: RCV003615080
• dbSNP Id: rs973053817
• gnomAD v4: 6-73621786-A-T
• MyVariant Identifiers: chr6:g.74331509A>T (hg19) ; chr6:g.73621786A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621786A>T , CM000668.2:g.73621786A>T	GRCh38
NC_000006.11:g.74331509A>T , CM000668.1:g.74331509A>T	GRCh37
NC_000006.10:g.74388230A>T	NCBI36
NG_008272.1:g.37229T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.978+18T>A MANE Select	ENSP00000348019.5:n.978+18T>A
ENST00000355773.5:c.978+18T>A	ENSP00000348019.5:n.978+18T>A
NM_012434.4:c.978+18T>A	NP_036566.1:n.978+18T>A
XM_005248710.2:c.927+18T>A	XP_005248767.1:n.927+18T>A
XM_005248711.1:c.780+18T>A	XP_005248768.1:n.780+18T>A
XM_011535750.1:c.978+18T>A	XP_011534052.1:n.978+18T>A
NM_012434.5:c.978+18T>A MANE Select	NP_036566.1:n.978+18T>A
NM_001382629.1:c.747+18T>A	NP_001369558.1:n.747+18T>A
NM_001382630.1:c.978+18T>A	NP_001369559.1:n.978+18T>A
NM_001382631.1:c.999+18T>A	NP_001369560.1:n.999+18T>A
NM_001382632.1:c.891+18T>A	NP_001369561.1:n.891+18T>A
NM_001382633.1:c.978+18T>A	NP_001369562.1:n.978+18T>A
NM_001382634.1:c.820-6339T>A	NP_001369563.1:n.820-6339T>A
NM_001382635.1:c.975+18T>A	NP_001369564.1:n.975+18T>A
NM_001382636.1:c.660+18T>A	NP_001369565.1:n.660+18T>A