Canonical Allele Identifier: CA263932
Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 56559
ClinVar RCV Id: RCV000049972
dbSNP Id: rs386833995
gnomAD v2: 6-74354327-C-G
gnomAD v4: 6-73644604-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644604C>G , CM000668.2:g.73644604C>G GRCh38
NC_000006.11:g.74354327C>G , CM000668.1:g.74354327C>G GRCh37
NC_000006.10:g.74411048C>G NCBI36
NG_008272.1:g.14411G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.95-1G>C MANE Select ENSP00000348019.5:n.95-1G>C
ENST00000355773.5:c.95-1G>C ENSP00000348019.5:n.95-1G>C
NM_012434.4:c.95-1G>C NP_036566.1:n.95-1G>C
XM_005248710.2:c.44-1G>C XP_005248767.1:n.44-1G>C
XM_005248711.1:c.-104-1G>C XP_005248768.1:n.-104-1G>C
XM_011535750.1:c.95-1G>C XP_011534052.1:n.95-1G>C
XM_011535751.1:c.95-1G>C XP_011534053.1:n.95-1G>C
NM_012434.5:c.95-1G>C MANE Select NP_036566.1:n.95-1G>C
NM_001382629.1:c.61-2680G>C NP_001369558.1:n.61-2680G>C
NM_001382630.1:c.95-1G>C NP_001369559.1:n.95-1G>C
NM_001382631.1:c.116-1G>C NP_001369560.1:n.116-1G>C
NM_001382632.1:c.95-1G>C NP_001369561.1:n.95-1G>C
NM_001382633.1:c.95-1G>C NP_001369562.1:n.95-1G>C
NM_001382634.1:c.95-1G>C NP_001369563.1:n.95-1G>C
NM_001382635.1:c.95-1G>C NP_001369564.1:n.95-1G>C
NM_001382636.1:c.61-2680G>C NP_001369565.1:n.61-2680G>C