Canonical Allele Identifier: CA364718276

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1352539459
• gnomAD v2: 6-74351598-G-T
• gnomAD v4: 6-73641875-G-T
• MyVariant Identifiers: chr6:g.74351598G>T (hg19) ; chr6:g.73641875G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641875G>T , CM000668.2:g.73641875G>T	GRCh38
NC_000006.11:g.74351598G>T , CM000668.1:g.74351598G>T	GRCh37
NC_000006.10:g.74408319G>T	NCBI36
NG_008272.1:g.17140C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.341C>A MANE Select	ENSP00000348019.5:p.Ser114Tyr
ENST00000355773.5:c.341C>A	ENSP00000348019.5:p.Ser114Tyr
ENST00000481996.1:n.107C>A
NM_012434.4:c.341C>A	NP_036566.1:p.Ser114Tyr
XM_005248710.2:c.290C>A	XP_005248767.1:p.Ser97Tyr
XM_005248711.1:c.143C>A	XP_005248768.1:p.Ser48Tyr
XM_011535750.1:c.341C>A	XP_011534052.1:p.Ser114Tyr
XM_011535751.1:c.341C>A	XP_011534053.1:p.Ser114Tyr
NM_012434.5:c.341C>A MANE Select	NP_036566.1:p.Ser114Tyr
NM_001382629.1:c.110C>A	NP_001369558.1:p.Ser37Tyr
NM_001382630.1:c.341C>A	NP_001369559.1:p.Ser114Tyr
NM_001382631.1:c.362C>A	NP_001369560.1:p.Ser121Tyr
NM_001382632.1:c.341C>A	NP_001369561.1:p.Ser114Tyr
NM_001382633.1:c.341C>A	NP_001369562.1:p.Ser114Tyr
NM_001382634.1:c.341C>A	NP_001369563.1:p.Ser114Tyr
NM_001382635.1:c.341C>A	NP_001369564.1:p.Ser114Tyr
NM_001382636.1:c.110C>A	NP_001369565.1:p.Ser37Tyr