Canonical Allele Identifier: CA1638222966
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641716A= , CM000668.2:g.73641716A= GRCh38
NC_000006.11:g.74351439A= , CM000668.1:g.74351439A= GRCh37
NC_000006.10:g.74408160A= NCBI36
NG_008272.1:g.17299T=

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.500T= MANE Select ENSP00000348019.5:p.Leu167=
ENST00000355773.5:c.500T= ENSP00000348019.5:p.Leu167=
ENST00000481996.1:n.266T=
NM_012434.4:c.500T= NP_036566.1:p.Leu167=
XM_005248710.2:c.449T= XP_005248767.1:p.Leu150=
XM_005248711.1:c.302T= XP_005248768.1:p.Leu101=
XM_011535750.1:c.500T= XP_011534052.1:p.Leu167=
XM_011535751.1:c.500T= XP_011534053.1:p.Leu167=
NM_012434.5:c.500T= MANE Select NP_036566.1:p.Leu167=
NM_001382629.1:c.269T= NP_001369558.1:p.Leu90=
NM_001382630.1:c.500T= NP_001369559.1:p.Leu167=
NM_001382631.1:c.521T= NP_001369560.1:p.Leu174=
NM_001382632.1:c.500T= NP_001369561.1:p.Leu167=
NM_001382633.1:c.500T= NP_001369562.1:p.Leu167=
NM_001382634.1:c.500T= NP_001369563.1:p.Leu167=
NM_001382635.1:c.500T= NP_001369564.1:p.Leu167=
NM_001382636.1:c.269T= NP_001369565.1:p.Leu90=