Canonical Allele Identifier: CA263932
Gene: SLC17A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 56559
ClinVar RCV Id: RCV000049972
dbSNP Id: rs386833995

User contributed link-outs

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
NM_012434.4:c.95-1G>C VV NP_036566.1:p.=
XM_005248710.2:c.44-1G>C XP_005248767.1:p.=
XM_005248711.1:c.-104-1G>C XP_005248768.1:p.=
XM_011535750.1:c.95-1G>C XP_011534052.1:p.=
XM_011535751.1:c.95-1G>C XP_011534053.1:p.=
NM_012434.5:c.95-1G>C VV MANE Preferred NP_036566.1:p.=
ENST00000355773.5:c.95-1G>C ENSP00000348019.5:p.=