Canonical Allele Identifier: CA827973618

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1425720885
• MyVariant Identifiers: chr6:g.74348217del (hg19) ; chr6:g.73638494del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638495del , CM000668.2:g.73638495del	GRCh38
NC_000006.11:g.74348218del , CM000668.1:g.74348218del	GRCh37
NC_000006.10:g.74404939del	NCBI36
NG_008272.1:g.20521del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.531del MANE Select	ENSP00000348019.5:p.Thr178HisfsTer?
ENST00000355773.5:c.531del	ENSP00000348019.5:p.Thr178HisfsTer?
ENST00000481996.1:n.297del
NM_012434.4:c.531del	NP_036566.1:p.Thr178HisfsTer?
XM_005248710.2:c.480del	XP_005248767.1:p.Thr161HisfsTer?
XM_005248711.1:c.333del	XP_005248768.1:p.Thr112HisfsTer?
XM_011535750.1:c.531del	XP_011534052.1:p.Thr178HisfsTer?
XM_011535751.1:c.531del	XP_011534053.1:p.Thr178HisfsTer?
NM_012434.5:c.531del MANE Select	NP_036566.1:p.Thr178HisfsTer?
NM_001382629.1:c.300del	NP_001369558.1:p.Thr101HisfsTer?
NM_001382630.1:c.531del	NP_001369559.1:p.Thr178HisfsTer?
NM_001382631.1:c.552del	NP_001369560.1:p.Thr185HisfsTer?
NM_001382632.1:c.531del	NP_001369561.1:p.Thr178HisfsTer?
NM_001382633.1:c.531del	NP_001369562.1:p.Thr178HisfsTer?
NM_001382634.1:c.531del	NP_001369563.1:p.Thr178HisfsTer?
NM_001382635.1:c.531del	NP_001369564.1:p.Thr178HisfsTer?
NM_001382636.1:c.300del	NP_001369565.1:p.Thr101HisfsTer?