Canonical Allele Identifier: CA364719951

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310088T>A (hg19) ; chr6:g.73600365T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600365T>A , CM000668.2:g.73600365T>A	GRCh38
NC_000006.11:g.74310088T>A , CM000668.1:g.74310088T>A	GRCh37
NC_000006.10:g.74366809T>A	NCBI36
NG_008272.1:g.58650A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1336A>T MANE Select	ENSP00000348019.5:p.Ser446Cys
ENST00000355773.5:c.1336A>T	ENSP00000348019.5:p.Ser446Cys
NM_012434.4:c.1336A>T	NP_036566.1:p.Ser446Cys
XM_005248710.2:c.1285A>T	XP_005248767.1:p.Ser429Cys
XM_005248711.1:c.1138A>T	XP_005248768.1:p.Ser380Cys
XM_011535750.1:c.1188A>T	XP_011534052.1:p.Lys396Asn
NM_012434.5:c.1336A>T MANE Select	NP_036566.1:p.Ser446Cys
NM_001382629.1:c.1105A>T	NP_001369558.1:p.Ser369Cys
NM_001382630.1:c.1260-5151A>T	NP_001369559.1:n.1260-5151A>T
NM_001382631.1:c.1357A>T	NP_001369560.1:p.Ser453Cys
NM_001382632.1:c.1249A>T	NP_001369561.1:p.Ser417Cys
NM_001382633.1:c.1336A>T	NP_001369562.1:p.Ser446Cys
NM_001382634.1:c.1177A>T	NP_001369563.1:p.Ser393Cys
NM_001382635.1:c.1333A>T	NP_001369564.1:p.Ser445Cys
NM_001382636.1:c.1018A>T	NP_001369565.1:p.Ser340Cys