Canonical Allele Identifier: CA1638224148
Gene: SLC17A5 HGNC NCBI

Linked Data

dbSNP Id: rs1581953381

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600583A>C , CM000668.2:g.73600583A>C GRCh38
NC_000006.11:g.74310306A>C , CM000668.1:g.74310306A>C GRCh37
NC_000006.10:g.74367027A>C NCBI36
NG_008272.1:g.58432T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1260-142T>G MANE Select ENSP00000348019.5:n.1260-142T>G
ENST00000355773.5:c.1260-142T>G ENSP00000348019.5:n.1260-142T>G
NM_012434.4:c.1260-142T>G NP_036566.1:n.1260-142T>G
XM_005248710.2:c.1209-142T>G XP_005248767.1:n.1209-142T>G
XM_005248711.1:c.1062-142T>G XP_005248768.1:n.1062-142T>G
XM_011535750.1:c.1112-142T>G XP_011534052.1:n.1112-142T>G
NM_012434.5:c.1260-142T>G MANE Select NP_036566.1:n.1260-142T>G
NM_001382629.1:c.1029-142T>G NP_001369558.1:n.1029-142T>G
NM_001382630.1:c.1260-5369T>G NP_001369559.1:n.1260-5369T>G
NM_001382631.1:c.1281-142T>G NP_001369560.1:n.1281-142T>G
NM_001382632.1:c.1173-142T>G NP_001369561.1:n.1173-142T>G
NM_001382633.1:c.1260-142T>G NP_001369562.1:n.1260-142T>G
NM_001382634.1:c.1101-142T>G NP_001369563.1:n.1101-142T>G
NM_001382635.1:c.1257-142T>G NP_001369564.1:n.1257-142T>G
NM_001382636.1:c.942-142T>G NP_001369565.1:n.942-142T>G