Canonical Allele Identifier: CA364713163

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621803C>T , CM000668.2:g.73621803C>T	GRCh38
NC_000006.11:g.74331526C>T , CM000668.1:g.74331526C>T	GRCh37
NC_000006.10:g.74388247C>T	NCBI36
NG_008272.1:g.37212G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.978+1G>A MANE Select	NP_036566.1:n.978+1G>A
ENST00000355773.6:c.978+1G>A MANE Select	ENSP00000348019.5:n.978+1G>A
NM_001382629.1:c.747+1G>A	NP_001369558.1:n.747+1G>A
NM_001382630.1:c.978+1G>A	NP_001369559.1:n.978+1G>A
NM_001382631.1:c.999+1G>A	NP_001369560.1:n.999+1G>A
NM_001382632.1:c.891+1G>A	NP_001369561.1:n.891+1G>A
NM_001382633.1:c.978+1G>A	NP_001369562.1:n.978+1G>A
NM_001382634.1:c.820-6356G>A	NP_001369563.1:n.820-6356G>A
NM_001382635.1:c.975+1G>A	NP_001369564.1:n.975+1G>A
NM_001382636.1:c.660+1G>A	NP_001369565.1:n.660+1G>A
NM_012434.4:c.978+1G>A	NP_036566.1:n.978+1G>A
ENST00000355773.5:c.978+1G>A	ENSP00000348019.5:n.978+1G>A
XM_005248710.2:c.927+1G>A	XP_005248767.1:n.927+1G>A
XM_005248711.1:c.780+1G>A	XP_005248768.1:n.780+1G>A
XM_011535750.1:c.978+1G>A	XP_011534052.1:n.978+1G>A