Canonical Allele Identifier: CA450912721

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310149G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600426G>T , CM000668.2:g.73600426G>T	GRCh38
NC_000006.11:g.74310149G>T , CM000668.1:g.74310149G>T	GRCh37
NC_000006.10:g.74366870G>T	NCBI36
NG_008272.1:g.58589C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1275C>A MANE Select	ENSP00000348019.5:p.Leu425=
ENST00000355773.5:c.1275C>A	ENSP00000348019.5:p.Leu425=
NM_012434.4:c.1275C>A	NP_036566.1:p.Leu425=
XM_005248710.2:c.1224C>A	XP_005248767.1:p.Leu408=
XM_005248711.1:c.1077C>A	XP_005248768.1:p.Leu359=
XM_011535750.1:c.1127C>A	XP_011534052.1:p.Ser376Tyr
NM_012434.5:c.1275C>A MANE Select	NP_036566.1:p.Leu425=
NM_001382629.1:c.1044C>A	NP_001369558.1:p.Leu348=
NM_001382630.1:c.1260-5212C>A	NP_001369559.1:n.1260-5212C>A
NM_001382631.1:c.1296C>A	NP_001369560.1:p.Leu432=
NM_001382632.1:c.1188C>A	NP_001369561.1:p.Leu396=
NM_001382633.1:c.1275C>A	NP_001369562.1:p.Leu425=
NM_001382634.1:c.1116C>A	NP_001369563.1:p.Leu372=
NM_001382635.1:c.1272C>A	NP_001369564.1:p.Leu424=
NM_001382636.1:c.957C>A	NP_001369565.1:p.Leu319=