Canonical Allele Identifier: CA3890579
Gene: SLC17A5 HGNC NCBI

Linked Data

dbSNP Id: rs750233695
gnomAD v2: 6-74354164-T-C
gnomAD v4: 6-73644441-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644441T>C , CM000668.2:g.73644441T>C GRCh38
NC_000006.11:g.74354164T>C , CM000668.1:g.74354164T>C GRCh37
NC_000006.10:g.74410885T>C NCBI36
NG_008272.1:g.14574A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.257A>G MANE Select ENSP00000348019.5:p.His86Arg
ENST00000355773.5:c.257A>G ENSP00000348019.5:p.His86Arg
ENST00000481996.1:n.23A>G
NM_012434.4:c.257A>G NP_036566.1:p.His86Arg
XM_005248710.2:c.206A>G XP_005248767.1:p.His69Arg
XM_005248711.1:c.59A>G XP_005248768.1:p.His20Arg
XM_011535750.1:c.257A>G XP_011534052.1:p.His86Arg
XM_011535751.1:c.257A>G XP_011534053.1:p.His86Arg
NM_012434.5:c.257A>G MANE Select NP_036566.1:p.His86Arg
NM_001382629.1:c.61-2517A>G NP_001369558.1:n.61-2517A>G
NM_001382630.1:c.257A>G NP_001369559.1:p.His86Arg
NM_001382631.1:c.278A>G NP_001369560.1:p.His93Arg
NM_001382632.1:c.257A>G NP_001369561.1:p.His86Arg
NM_001382633.1:c.257A>G NP_001369562.1:p.His86Arg
NM_001382634.1:c.257A>G NP_001369563.1:p.His86Arg
NM_001382635.1:c.257A>G NP_001369564.1:p.His86Arg
NM_001382636.1:c.61-2517A>G NP_001369565.1:n.61-2517A>G