Canonical Allele Identifier: CA827973544

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1321115911
• gnomAD v3: 6-73638449-A-AG
• gnomAD v4: 6-73638449-A-AG
• MyVariant Identifiers: chr6:g.74348172_74348173insG (hg19) ; chr6:g.73638449_73638450insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638454dup , CM000668.2:g.73638454dup	GRCh38
NC_000006.11:g.74348177dup , CM000668.1:g.74348177dup	GRCh37
NC_000006.10:g.74404898dup	NCBI36
NG_008272.1:g.20565dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.575dup MANE Select	ENSP00000348019.5:p.Leu193SerfsTer2
ENST00000355773.5:c.575dup	ENSP00000348019.5:p.Leu193SerfsTer2
ENST00000481996.1:n.341dup
NM_012434.4:c.575dup	NP_036566.1:p.Leu193SerfsTer2
XM_005248710.2:c.524dup	XP_005248767.1:p.Leu176SerfsTer2
XM_005248711.1:c.377dup	XP_005248768.1:p.Leu127SerfsTer2
XM_011535750.1:c.575dup	XP_011534052.1:p.Leu193SerfsTer2
XM_011535751.1:c.575dup	XP_011534053.1:p.Leu193SerfsTer2
NM_012434.5:c.575dup MANE Select	NP_036566.1:p.Leu193SerfsTer2
NM_001382629.1:c.344dup	NP_001369558.1:p.Leu116SerfsTer2
NM_001382630.1:c.575dup	NP_001369559.1:p.Leu193SerfsTer2
NM_001382631.1:c.596dup	NP_001369560.1:p.Leu200SerfsTer2
NM_001382632.1:c.575dup	NP_001369561.1:p.Leu193SerfsTer2
NM_001382633.1:c.575dup	NP_001369562.1:p.Leu193SerfsTer2
NM_001382634.1:c.575dup	NP_001369563.1:p.Leu193SerfsTer2
NM_001382635.1:c.575dup	NP_001369564.1:p.Leu193SerfsTer2
NM_001382636.1:c.344dup	NP_001369565.1:p.Leu116SerfsTer2