Canonical Allele Identifier: CA364718382
Gene: SLC17A5 HGNC NCBI

Linked Data

dbSNP Id: rs781241076
gnomAD v2: 6-74351643-T-A
gnomAD v4: 6-73641920-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641920T>A , CM000668.2:g.73641920T>A GRCh38
NC_000006.11:g.74351643T>A , CM000668.1:g.74351643T>A GRCh37
NC_000006.10:g.74408364T>A NCBI36
NG_008272.1:g.17095A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.296A>T MANE Select ENSP00000348019.5:p.Lys99Met
ENST00000355773.5:c.296A>T ENSP00000348019.5:p.Lys99Met
ENST00000481996.1:n.62A>T
NM_012434.4:c.296A>T NP_036566.1:p.Lys99Met
XM_005248710.2:c.245A>T XP_005248767.1:p.Lys82Met
XM_005248711.1:c.98A>T XP_005248768.1:p.Lys33Met
XM_011535750.1:c.296A>T XP_011534052.1:p.Lys99Met
XM_011535751.1:c.296A>T XP_011534053.1:p.Lys99Met
NM_012434.5:c.296A>T MANE Select NP_036566.1:p.Lys99Met
NM_001382629.1:c.65A>T NP_001369558.1:p.Lys22Met
NM_001382630.1:c.296A>T NP_001369559.1:p.Lys99Met
NM_001382631.1:c.317A>T NP_001369560.1:p.Lys106Met
NM_001382632.1:c.296A>T NP_001369561.1:p.Lys99Met
NM_001382633.1:c.296A>T NP_001369562.1:p.Lys99Met
NM_001382634.1:c.296A>T NP_001369563.1:p.Lys99Met
NM_001382635.1:c.296A>T NP_001369564.1:p.Lys99Met
NM_001382636.1:c.65A>T NP_001369565.1:p.Lys22Met