Canonical Allele Identifier: CA827949175

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1448910258
• gnomAD v2: 6-74309994-C-T
• gnomAD v3: 6-73600271-C-T
• gnomAD v4: 6-73600271-C-T
• MyVariant Identifiers: chr6:g.74309994C>T (hg19) ; chr6:g.73600271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600271C>T , CM000668.2:g.73600271C>T	GRCh38
NC_000006.11:g.74309994C>T , CM000668.1:g.74309994C>T	GRCh37
NC_000006.10:g.74366715C>T	NCBI36
NG_008272.1:g.58744G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1350+80G>A MANE Select	ENSP00000348019.5:n.1350+80G>A
ENST00000355773.5:c.1350+80G>A	ENSP00000348019.5:n.1350+80G>A
NM_012434.4:c.1350+80G>A	NP_036566.1:n.1350+80G>A
XM_005248710.2:c.1299+80G>A	XP_005248767.1:n.1299+80G>A
XM_005248711.1:c.1152+80G>A	XP_005248768.1:n.1152+80G>A
XM_011535750.1:c.*8+80G>A	XP_011534052.1:n.*8+80G>A
NM_012434.5:c.1350+80G>A MANE Select	NP_036566.1:n.1350+80G>A
NM_001382629.1:c.1119+80G>A	NP_001369558.1:n.1119+80G>A
NM_001382630.1:c.1260-5057G>A	NP_001369559.1:n.1260-5057G>A
NM_001382631.1:c.1371+80G>A	NP_001369560.1:n.1371+80G>A
NM_001382632.1:c.1263+80G>A	NP_001369561.1:n.1263+80G>A
NM_001382633.1:c.1350+80G>A	NP_001369562.1:n.1350+80G>A
NM_001382634.1:c.1191+80G>A	NP_001369563.1:n.1191+80G>A
NM_001382635.1:c.1347+80G>A	NP_001369564.1:n.1347+80G>A
NM_001382636.1:c.1032+80G>A	NP_001369565.1:n.1032+80G>A