Canonical Allele Identifier: CA450912537

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600357-G-T
• MyVariant Identifiers: chr6:g.74310080G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600357G>T , CM000668.2:g.73600357G>T	GRCh38
NC_000006.11:g.74310080G>T , CM000668.1:g.74310080G>T	GRCh37
NC_000006.10:g.74366801G>T	NCBI36
NG_008272.1:g.58658C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1344C>A MANE Select	ENSP00000348019.5:p.Thr448=
ENST00000355773.5:c.1344C>A	ENSP00000348019.5:p.Thr448=
NM_012434.4:c.1344C>A	NP_036566.1:p.Thr448=
XM_005248710.2:c.1293C>A	XP_005248767.1:p.Thr431=
XM_005248711.1:c.1146C>A	XP_005248768.1:p.Thr382=
XM_011535750.1:c.*2C>A	XP_011534052.1:n.*2C>A
NM_012434.5:c.1344C>A MANE Select	NP_036566.1:p.Thr448=
NM_001382629.1:c.1113C>A	NP_001369558.1:p.Thr371=
NM_001382630.1:c.1260-5143C>A	NP_001369559.1:n.1260-5143C>A
NM_001382631.1:c.1365C>A	NP_001369560.1:p.Thr455=
NM_001382632.1:c.1257C>A	NP_001369561.1:p.Thr419=
NM_001382633.1:c.1344C>A	NP_001369562.1:p.Thr448=
NM_001382634.1:c.1185C>A	NP_001369563.1:p.Thr395=
NM_001382635.1:c.1341C>A	NP_001369564.1:p.Thr447=
NM_001382636.1:c.1026C>A	NP_001369565.1:p.Thr342=