Canonical Allele Identifier: CA3890319

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610411A>G , CM000668.2:g.73610411A>G	GRCh38
NC_000006.11:g.74320134A>G , CM000668.1:g.74320134A>G	GRCh37
NC_000006.10:g.74376855A>G	NCBI36
NG_008272.1:g.48604T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.1248T>C MANE Select	NP_036566.1:p.Asp416=
ENST00000355773.6:c.1248T>C MANE Select	ENSP00000348019.5:p.Asp416=
NM_001382629.1:c.1017T>C	NP_001369558.1:p.Asp339=
NM_001382630.1:c.1248T>C	NP_001369559.1:p.Asp416=
NM_001382631.1:c.1269T>C	NP_001369560.1:p.Asp423=
NM_001382632.1:c.1161T>C	NP_001369561.1:p.Asp387=
NM_001382633.1:c.1248T>C	NP_001369562.1:p.Asp416=
NM_001382634.1:c.1089T>C	NP_001369563.1:p.Asp363=
NM_001382635.1:c.1245T>C	NP_001369564.1:p.Asp415=
NM_001382636.1:c.930T>C	NP_001369565.1:p.Asp310=
NM_012434.4:c.1248T>C	NP_036566.1:p.Asp416=
ENST00000355773.5:c.1248T>C	ENSP00000348019.5:p.Asp416=
XM_005248710.2:c.1197T>C	XP_005248767.1:p.Asp399=
XM_005248711.1:c.1050T>C	XP_005248768.1:p.Asp350=
XM_011535750.1:c.1111+4904T>C	XP_011534052.1:n.1111+4904T>C