Canonical Allele Identifier: CA364719956

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310090T>A (hg19) ; chr6:g.73600367T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600367T>A , CM000668.2:g.73600367T>A	GRCh38
NC_000006.11:g.74310090T>A , CM000668.1:g.74310090T>A	GRCh37
NC_000006.10:g.74366811T>A	NCBI36
NG_008272.1:g.58648A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1334A>T MANE Select	ENSP00000348019.5:p.Lys445Ile
ENST00000355773.5:c.1334A>T	ENSP00000348019.5:p.Lys445Ile
NM_012434.4:c.1334A>T	NP_036566.1:p.Lys445Ile
XM_005248710.2:c.1283A>T	XP_005248767.1:p.Lys428Ile
XM_005248711.1:c.1136A>T	XP_005248768.1:p.Lys379Ile
XM_011535750.1:c.1186A>T	XP_011534052.1:p.Lys396Ter
NM_012434.5:c.1334A>T MANE Select	NP_036566.1:p.Lys445Ile
NM_001382629.1:c.1103A>T	NP_001369558.1:p.Lys368Ile
NM_001382630.1:c.1260-5153A>T	NP_001369559.1:n.1260-5153A>T
NM_001382631.1:c.1355A>T	NP_001369560.1:p.Lys452Ile
NM_001382632.1:c.1247A>T	NP_001369561.1:p.Lys416Ile
NM_001382633.1:c.1334A>T	NP_001369562.1:p.Lys445Ile
NM_001382634.1:c.1175A>T	NP_001369563.1:p.Lys392Ile
NM_001382635.1:c.1331A>T	NP_001369564.1:p.Lys444Ile
NM_001382636.1:c.1016A>T	NP_001369565.1:p.Lys339Ile