Canonical Allele Identifier: CA2578669498

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600291C>A , CM000668.2:g.73600291C>A	GRCh38
NC_000006.11:g.74310014C>A , CM000668.1:g.74310014C>A	GRCh37
NC_000006.10:g.74366735C>A	NCBI36
NG_008272.1:g.58724G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1350+60G>T MANE Select	ENSP00000348019.5:n.1350+60G>T
ENST00000355773.5:c.1350+60G>T	ENSP00000348019.5:n.1350+60G>T
NM_012434.4:c.1350+60G>T	NP_036566.1:n.1350+60G>T
XM_005248710.2:c.1299+60G>T	XP_005248767.1:n.1299+60G>T
XM_005248711.1:c.1152+60G>T	XP_005248768.1:n.1152+60G>T
XM_011535750.1:c.*8+60G>T	XP_011534052.1:n.*8+60G>T
NM_012434.5:c.1350+60G>T MANE Select	NP_036566.1:n.1350+60G>T
NM_001382629.1:c.1119+60G>T	NP_001369558.1:n.1119+60G>T
NM_001382630.1:c.1260-5077G>T	NP_001369559.1:n.1260-5077G>T
NM_001382631.1:c.1371+60G>T	NP_001369560.1:n.1371+60G>T
NM_001382632.1:c.1263+60G>T	NP_001369561.1:n.1263+60G>T
NM_001382633.1:c.1350+60G>T	NP_001369562.1:n.1350+60G>T
NM_001382634.1:c.1191+60G>T	NP_001369563.1:n.1191+60G>T
NM_001382635.1:c.1347+60G>T	NP_001369564.1:n.1347+60G>T
NM_001382636.1:c.1032+60G>T	NP_001369565.1:n.1032+60G>T