Canonical Allele Identifier: CA2679404776
Gene: SLC17A5 HGNC NCBI

Linked Data

gnomAD v4: 6-73638593-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73638593C>A , CM000668.2:g.73638593C>A GRCh38
NC_000006.11:g.74348316C>A , CM000668.1:g.74348316C>A GRCh37
NC_000006.10:g.74405037C>A NCBI36
NG_008272.1:g.20422G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.526-94G>T MANE Select ENSP00000348019.5:n.526-94G>T
ENST00000355773.5:c.526-94G>T ENSP00000348019.5:n.526-94G>T
ENST00000481996.1:n.292-94G>T
NM_012434.4:c.526-94G>T NP_036566.1:n.526-94G>T
XM_005248710.2:c.475-94G>T XP_005248767.1:n.475-94G>T
XM_005248711.1:c.328-94G>T XP_005248768.1:n.328-94G>T
XM_011535750.1:c.526-94G>T XP_011534052.1:n.526-94G>T
XM_011535751.1:c.526-94G>T XP_011534053.1:n.526-94G>T
NM_012434.5:c.526-94G>T MANE Select NP_036566.1:n.526-94G>T
NM_001382629.1:c.295-94G>T NP_001369558.1:n.295-94G>T
NM_001382630.1:c.526-94G>T NP_001369559.1:n.526-94G>T
NM_001382631.1:c.547-94G>T NP_001369560.1:n.547-94G>T
NM_001382632.1:c.526-94G>T NP_001369561.1:n.526-94G>T
NM_001382633.1:c.526-94G>T NP_001369562.1:n.526-94G>T
NM_001382634.1:c.526-94G>T NP_001369563.1:n.526-94G>T
NM_001382635.1:c.526-94G>T NP_001369564.1:n.526-94G>T
NM_001382636.1:c.295-94G>T NP_001369565.1:n.295-94G>T