Canonical Allele Identifier: CA2679403290

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1403635330
• gnomAD v4: 6-73600282-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600282T>G , CM000668.2:g.73600282T>G	GRCh38
NC_000006.11:g.74310005T>G , CM000668.1:g.74310005T>G	GRCh37
NC_000006.10:g.74366726T>G	NCBI36
NG_008272.1:g.58733A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1350+69A>C MANE Select	ENSP00000348019.5:n.1350+69A>C
ENST00000355773.5:c.1350+69A>C	ENSP00000348019.5:n.1350+69A>C
NM_012434.4:c.1350+69A>C	NP_036566.1:n.1350+69A>C
XM_005248710.2:c.1299+69A>C	XP_005248767.1:n.1299+69A>C
XM_005248711.1:c.1152+69A>C	XP_005248768.1:n.1152+69A>C
XM_011535750.1:c.*8+69A>C	XP_011534052.1:n.*8+69A>C
NM_012434.5:c.1350+69A>C MANE Select	NP_036566.1:n.1350+69A>C
NM_001382629.1:c.1119+69A>C	NP_001369558.1:n.1119+69A>C
NM_001382630.1:c.1260-5068A>C	NP_001369559.1:n.1260-5068A>C
NM_001382631.1:c.1371+69A>C	NP_001369560.1:n.1371+69A>C
NM_001382632.1:c.1263+69A>C	NP_001369561.1:n.1263+69A>C
NM_001382633.1:c.1350+69A>C	NP_001369562.1:n.1350+69A>C
NM_001382634.1:c.1191+69A>C	NP_001369563.1:n.1191+69A>C
NM_001382635.1:c.1347+69A>C	NP_001369564.1:n.1347+69A>C
NM_001382636.1:c.1032+69A>C	NP_001369565.1:n.1032+69A>C