Canonical Allele Identifier: CA364716764

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73638441-C-T
• COSMIC: COSM4153615
• MyVariant Identifiers: chr6:g.74348164C>T (hg19) ; chr6:g.73638441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638441C>T , CM000668.2:g.73638441C>T	GRCh38
NC_000006.11:g.74348164C>T , CM000668.1:g.74348164C>T	GRCh37
NC_000006.10:g.74404885C>T	NCBI36
NG_008272.1:g.20574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.584G>A MANE Select	ENSP00000348019.5:p.Arg195Lys
ENST00000355773.5:c.584G>A	ENSP00000348019.5:p.Arg195Lys
ENST00000481996.1:n.350G>A
NM_012434.4:c.584G>A	NP_036566.1:p.Arg195Lys
XM_005248710.2:c.533G>A	XP_005248767.1:p.Arg178Lys
XM_005248711.1:c.386G>A	XP_005248768.1:p.Arg129Lys
XM_011535750.1:c.584G>A	XP_011534052.1:p.Arg195Lys
XM_011535751.1:c.584G>A	XP_011534053.1:p.Arg195Lys
NM_012434.5:c.584G>A MANE Select	NP_036566.1:p.Arg195Lys
NM_001382629.1:c.353G>A	NP_001369558.1:p.Arg118Lys
NM_001382630.1:c.584G>A	NP_001369559.1:p.Arg195Lys
NM_001382631.1:c.605G>A	NP_001369560.1:p.Arg202Lys
NM_001382632.1:c.584G>A	NP_001369561.1:p.Arg195Lys
NM_001382633.1:c.584G>A	NP_001369562.1:p.Arg195Lys
NM_001382634.1:c.584G>A	NP_001369563.1:p.Arg195Lys
NM_001382635.1:c.584G>A	NP_001369564.1:p.Arg195Lys
NM_001382636.1:c.353G>A	NP_001369565.1:p.Arg118Lys