Canonical Allele Identifier: CA364716756

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1209479107
• gnomAD v2: 6-74348161-C-T
• gnomAD v4: 6-73638438-C-T
• MyVariant Identifiers: chr6:g.74348161C>T (hg19) ; chr6:g.73638438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638438C>T , CM000668.2:g.73638438C>T	GRCh38
NC_000006.11:g.74348161C>T , CM000668.1:g.74348161C>T	GRCh37
NC_000006.10:g.74404882C>T	NCBI36
NG_008272.1:g.20577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.587G>A MANE Select	ENSP00000348019.5:p.Ser196Asn
ENST00000355773.5:c.587G>A	ENSP00000348019.5:p.Ser196Asn
ENST00000481996.1:n.353G>A
NM_012434.4:c.587G>A	NP_036566.1:p.Ser196Asn
XM_005248710.2:c.536G>A	XP_005248767.1:p.Ser179Asn
XM_005248711.1:c.389G>A	XP_005248768.1:p.Ser130Asn
XM_011535750.1:c.587G>A	XP_011534052.1:p.Ser196Asn
XM_011535751.1:c.587G>A	XP_011534053.1:p.Ser196Asn
NM_012434.5:c.587G>A MANE Select	NP_036566.1:p.Ser196Asn
NM_001382629.1:c.356G>A	NP_001369558.1:p.Ser119Asn
NM_001382630.1:c.587G>A	NP_001369559.1:p.Ser196Asn
NM_001382631.1:c.608G>A	NP_001369560.1:p.Ser203Asn
NM_001382632.1:c.587G>A	NP_001369561.1:p.Ser196Asn
NM_001382633.1:c.587G>A	NP_001369562.1:p.Ser196Asn
NM_001382634.1:c.587G>A	NP_001369563.1:p.Ser196Asn
NM_001382635.1:c.587G>A	NP_001369564.1:p.Ser196Asn
NM_001382636.1:c.356G>A	NP_001369565.1:p.Ser119Asn