Canonical Allele Identifier: CA450912632
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74310116T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600393T>C , CM000668.2:g.73600393T>C GRCh38
NC_000006.11:g.74310116T>C , CM000668.1:g.74310116T>C GRCh37
NC_000006.10:g.74366837T>C NCBI36
NG_008272.1:g.58622A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1308A>G MANE Select ENSP00000348019.5:p.Pro436=
ENST00000355773.5:c.1308A>G ENSP00000348019.5:p.Pro436=
NM_012434.4:c.1308A>G NP_036566.1:p.Pro436=
XM_005248710.2:c.1257A>G XP_005248767.1:p.Pro419=
XM_005248711.1:c.1110A>G XP_005248768.1:p.Pro370=
XM_011535750.1:c.1160A>G XP_011534052.1:p.Gln387Arg
NM_012434.5:c.1308A>G MANE Select NP_036566.1:p.Pro436=
NM_001382629.1:c.1077A>G NP_001369558.1:p.Pro359=
NM_001382630.1:c.1260-5179A>G NP_001369559.1:n.1260-5179A>G
NM_001382631.1:c.1329A>G NP_001369560.1:p.Pro443=
NM_001382632.1:c.1221A>G NP_001369561.1:p.Pro407=
NM_001382633.1:c.1308A>G NP_001369562.1:p.Pro436=
NM_001382634.1:c.1149A>G NP_001369563.1:p.Pro383=
NM_001382635.1:c.1305A>G NP_001369564.1:p.Pro435=
NM_001382636.1:c.990A>G NP_001369565.1:p.Pro330=