Canonical Allele Identifier: CA364713762

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621964T>G , CM000668.2:g.73621964T>G	GRCh38
NC_000006.11:g.74331687T>G , CM000668.1:g.74331687T>G	GRCh37
NC_000006.10:g.74388408T>G	NCBI36
NG_008272.1:g.37051A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.820-2A>C MANE Select	NP_036566.1:n.820-2A>C
ENST00000355773.6:c.820-2A>C MANE Select	ENSP00000348019.5:n.820-2A>C
NM_001382629.1:c.589-2A>C	NP_001369558.1:n.589-2A>C
NM_001382630.1:c.820-2A>C	NP_001369559.1:n.820-2A>C
NM_001382631.1:c.841-2A>C	NP_001369560.1:n.841-2A>C
NM_001382632.1:c.733-2A>C	NP_001369561.1:n.733-2A>C
NM_001382633.1:c.820-2A>C	NP_001369562.1:n.820-2A>C
NM_001382634.1:c.820-6517A>C	NP_001369563.1:n.820-6517A>C
NM_001382635.1:c.817-2A>C	NP_001369564.1:n.817-2A>C
NM_001382636.1:c.502-2A>C	NP_001369565.1:n.502-2A>C
NM_012434.4:c.820-2A>C	NP_036566.1:n.820-2A>C
ENST00000355773.5:c.820-2A>C	ENSP00000348019.5:n.820-2A>C
XM_005248710.2:c.769-2A>C	XP_005248767.1:n.769-2A>C
XM_005248711.1:c.622-2A>C	XP_005248768.1:n.622-2A>C
XM_011535750.1:c.820-2A>C	XP_011534052.1:n.820-2A>C