Canonical Allele Identifier: CA140973789

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1022766219
• MyVariant Identifiers: chr6:g.74348171del (hg19) ; chr6:g.73638448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638448del , CM000668.2:g.73638448del	GRCh38
NC_000006.11:g.74348171del , CM000668.1:g.74348171del	GRCh37
NC_000006.10:g.74404892del	NCBI36
NG_008272.1:g.20567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.577del MANE Select	ENSP00000348019.5:p.Glu194LysfsTer18
ENST00000355773.5:c.577del	ENSP00000348019.5:p.Glu194LysfsTer18
ENST00000481996.1:n.343del
NM_012434.4:c.577del	NP_036566.1:p.Glu194LysfsTer18
XM_005248710.2:c.526del	XP_005248767.1:p.Glu177LysfsTer18
XM_005248711.1:c.379del	XP_005248768.1:p.Glu128LysfsTer18
XM_011535750.1:c.577del	XP_011534052.1:p.Glu194LysfsTer18
XM_011535751.1:c.577del	XP_011534053.1:p.Glu194LysfsTer18
NM_012434.5:c.577del MANE Select	NP_036566.1:p.Glu194LysfsTer18
NM_001382629.1:c.346del	NP_001369558.1:p.Glu117LysfsTer18
NM_001382630.1:c.577del	NP_001369559.1:p.Glu194LysfsTer18
NM_001382631.1:c.598del	NP_001369560.1:p.Glu201LysfsTer18
NM_001382632.1:c.577del	NP_001369561.1:p.Glu194LysfsTer25
NM_001382633.1:c.577del	NP_001369562.1:p.Glu194LysfsTer18
NM_001382634.1:c.577del	NP_001369563.1:p.Glu194LysfsTer18
NM_001382635.1:c.577del	NP_001369564.1:p.Glu194LysfsTer17
NM_001382636.1:c.346del	NP_001369565.1:p.Glu117LysfsTer25