Canonical Allele Identifier: CA450912392
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74354241C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644518C>A , CM000668.2:g.73644518C>A GRCh38
NC_000006.11:g.74354241C>A , CM000668.1:g.74354241C>A GRCh37
NC_000006.10:g.74410962C>A NCBI36
NG_008272.1:g.14497G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.180G>T MANE Select ENSP00000348019.5:p.Leu60=
ENST00000355773.5:c.180G>T ENSP00000348019.5:p.Leu60=
NM_012434.4:c.180G>T NP_036566.1:p.Leu60=
XM_005248710.2:c.129G>T XP_005248767.1:p.Leu43=
XM_005248711.1:c.-19G>T XP_005248768.1:n.-19G>T
XM_011535750.1:c.180G>T XP_011534052.1:p.Leu60=
XM_011535751.1:c.180G>T XP_011534053.1:p.Leu60=
NM_012434.5:c.180G>T MANE Select NP_036566.1:p.Leu60=
NM_001382629.1:c.61-2594G>T NP_001369558.1:n.61-2594G>T
NM_001382630.1:c.180G>T NP_001369559.1:p.Leu60=
NM_001382631.1:c.201G>T NP_001369560.1:p.Leu67=
NM_001382632.1:c.180G>T NP_001369561.1:p.Leu60=
NM_001382633.1:c.180G>T NP_001369562.1:p.Leu60=
NM_001382634.1:c.180G>T NP_001369563.1:p.Leu60=
NM_001382635.1:c.180G>T NP_001369564.1:p.Leu60=
NM_001382636.1:c.61-2594G>T NP_001369565.1:n.61-2594G>T