Canonical Allele Identifier: CA2679404860

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73641605-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641605C>T , CM000668.2:g.73641605C>T	GRCh38
NC_000006.11:g.74351328C>T , CM000668.1:g.74351328C>T	GRCh37
NC_000006.10:g.74408049C>T	NCBI36
NG_008272.1:g.17410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.525+86G>A MANE Select	ENSP00000348019.5:n.525+86G>A
ENST00000355773.5:c.525+86G>A	ENSP00000348019.5:n.525+86G>A
ENST00000481996.1:n.291+86G>A
NM_012434.4:c.525+86G>A	NP_036566.1:n.525+86G>A
XM_005248710.2:c.474+86G>A	XP_005248767.1:n.474+86G>A
XM_005248711.1:c.327+86G>A	XP_005248768.1:n.327+86G>A
XM_011535750.1:c.525+86G>A	XP_011534052.1:n.525+86G>A
XM_011535751.1:c.525+86G>A	XP_011534053.1:n.525+86G>A
NM_012434.5:c.525+86G>A MANE Select	NP_036566.1:n.525+86G>A
NM_001382629.1:c.294+86G>A	NP_001369558.1:n.294+86G>A
NM_001382630.1:c.525+86G>A	NP_001369559.1:n.525+86G>A
NM_001382631.1:c.546+86G>A	NP_001369560.1:n.546+86G>A
NM_001382632.1:c.525+86G>A	NP_001369561.1:n.525+86G>A
NM_001382633.1:c.525+86G>A	NP_001369562.1:n.525+86G>A
NM_001382634.1:c.525+86G>A	NP_001369563.1:n.525+86G>A
NM_001382635.1:c.525+86G>A	NP_001369564.1:n.525+86G>A
NM_001382636.1:c.294+86G>A	NP_001369565.1:n.294+86G>A