Canonical Allele Identifier: CA450912386

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74354231A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644508A>G , CM000668.2:g.73644508A>G	GRCh38
NC_000006.11:g.74354231A>G , CM000668.1:g.74354231A>G	GRCh37
NC_000006.10:g.74410952A>G	NCBI36
NG_008272.1:g.14507T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.190T>C MANE Select	ENSP00000348019.5:p.Leu64=
ENST00000355773.5:c.190T>C	ENSP00000348019.5:p.Leu64=
NM_012434.4:c.190T>C	NP_036566.1:p.Leu64=
XM_005248710.2:c.139T>C	XP_005248767.1:p.Leu47=
XM_005248711.1:c.-9T>C	XP_005248768.1:n.-9T>C
XM_011535750.1:c.190T>C	XP_011534052.1:p.Leu64=
XM_011535751.1:c.190T>C	XP_011534053.1:p.Leu64=
NM_012434.5:c.190T>C MANE Select	NP_036566.1:p.Leu64=
NM_001382629.1:c.61-2584T>C	NP_001369558.1:n.61-2584T>C
NM_001382630.1:c.190T>C	NP_001369559.1:p.Leu64=
NM_001382631.1:c.211T>C	NP_001369560.1:p.Leu71=
NM_001382632.1:c.190T>C	NP_001369561.1:p.Leu64=
NM_001382633.1:c.190T>C	NP_001369562.1:p.Leu64=
NM_001382634.1:c.190T>C	NP_001369563.1:p.Leu64=
NM_001382635.1:c.190T>C	NP_001369564.1:p.Leu64=
NM_001382636.1:c.61-2584T>C	NP_001369565.1:n.61-2584T>C