Canonical Allele Identifier: CA568118731

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1243887255
• gnomAD v2: 6-74331528-T-TC
• gnomAD v4: 6-73621805-T-TC
• MyVariant Identifiers: chr6:g.74331528_74331529insC (hg19) ; chr6:g.73621805_73621806insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621806dup , CM000668.2:g.73621806dup	GRCh38
NC_000006.11:g.74331529dup , CM000668.1:g.74331529dup	GRCh37
NC_000006.10:g.74388250dup	NCBI36
NG_008272.1:g.37209dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.976dup MANE Select	ENSP00000348019.5:p.Glu326GlyfsTer25
ENST00000355773.5:c.976dup	ENSP00000348019.5:p.Glu326GlyfsTer25
NM_012434.4:c.976dup	NP_036566.1:p.Glu326GlyfsTer25
XM_005248710.2:c.925dup	XP_005248767.1:p.Glu309GlyfsTer25
XM_005248711.1:c.778dup	XP_005248768.1:p.Glu260GlyfsTer25
XM_011535750.1:c.976dup	XP_011534052.1:p.Glu326GlyfsTer25
NM_012434.5:c.976dup MANE Select	NP_036566.1:p.Glu326GlyfsTer25
NM_001382629.1:c.745dup	NP_001369558.1:p.Glu249GlyfsTer25
NM_001382630.1:c.976dup	NP_001369559.1:p.Glu326GlyfsTer25
NM_001382631.1:c.997dup	NP_001369560.1:p.Glu333GlyfsTer25
NM_001382632.1:c.889dup	NP_001369561.1:p.Glu297GlyfsTer25
NM_001382633.1:c.976dup	NP_001369562.1:p.Glu326GlyfsTer25
NM_001382634.1:c.820-6359dup	NP_001369563.1:n.820-6359dup
NM_001382635.1:c.973dup	NP_001369564.1:p.Glu325GlyfsTer25
NM_001382636.1:c.658dup	NP_001369565.1:p.Glu220GlyfsTer25