Canonical Allele Identifier: CA827949485

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1255211257
• gnomAD v4: 6-73600566-TG-T
• MyVariant Identifiers: chr6:g.74310290del (hg19) ; chr6:g.73600567del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600569del , CM000668.2:g.73600569del	GRCh38
NC_000006.11:g.74310292del , CM000668.1:g.74310292del	GRCh37
NC_000006.10:g.74367013del	NCBI36
NG_008272.1:g.58448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1260-126del MANE Select	ENSP00000348019.5:n.1260-126del
ENST00000355773.5:c.1260-126del	ENSP00000348019.5:n.1260-126del
NM_012434.4:c.1260-126del	NP_036566.1:n.1260-126del
XM_005248710.2:c.1209-126del	XP_005248767.1:n.1209-126del
XM_005248711.1:c.1062-126del	XP_005248768.1:n.1062-126del
XM_011535750.1:c.1112-126del	XP_011534052.1:n.1112-126del
NM_012434.5:c.1260-126del MANE Select	NP_036566.1:n.1260-126del
NM_001382629.1:c.1029-126del	NP_001369558.1:n.1029-126del
NM_001382630.1:c.1260-5353del	NP_001369559.1:n.1260-5353del
NM_001382631.1:c.1281-126del	NP_001369560.1:n.1281-126del
NM_001382632.1:c.1173-126del	NP_001369561.1:n.1173-126del
NM_001382633.1:c.1260-126del	NP_001369562.1:n.1260-126del
NM_001382634.1:c.1101-126del	NP_001369563.1:n.1101-126del
NM_001382635.1:c.1257-126del	NP_001369564.1:n.1257-126del
NM_001382636.1:c.942-126del	NP_001369565.1:n.942-126del