Canonical Allele Identifier: CA364712353
Gene: SLC17A5 HGNC NCBI

Linked Data

gnomAD v4: 6-73615409-C-T
MyVariant Identifiers: chr6:g.74325132C>T (hg19) chr6:g.73615409C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73615409C>T , CM000668.2:g.73615409C>T GRCh38
NC_000006.11:g.74325132C>T , CM000668.1:g.74325132C>T GRCh37
NC_000006.10:g.74381853C>T NCBI36
NG_008272.1:g.43606G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.1017G>A MANE Select ENSP00000348019.5:p.Trp339Ter
ENST00000355773.5:c.1017G>A ENSP00000348019.5:p.Trp339Ter
NM_012434.4:c.1017G>A NP_036566.1:p.Trp339Ter
XM_005248710.2:c.966G>A XP_005248767.1:p.Trp322Ter
XM_005248711.1:c.819G>A XP_005248768.1:p.Trp273Ter
XM_011535750.1:c.1017G>A XP_011534052.1:p.Trp339Ter
NM_012434.5:c.1017G>A MANE Select NP_036566.1:p.Trp339Ter
NM_001382629.1:c.786G>A NP_001369558.1:p.Trp262Ter
NM_001382630.1:c.1017G>A NP_001369559.1:p.Trp339Ter
NM_001382631.1:c.1038G>A NP_001369560.1:p.Trp346Ter
NM_001382632.1:c.930G>A NP_001369561.1:p.Trp310Ter
NM_001382633.1:c.1017G>A NP_001369562.1:p.Trp339Ter
NM_001382634.1:c.858G>A NP_001369563.1:p.Trp286Ter
NM_001382635.1:c.1014G>A NP_001369564.1:p.Trp338Ter
NM_001382636.1:c.699G>A NP_001369565.1:p.Trp233Ter
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