Canonical Allele Identifier: CA364718555

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1240238827
• gnomAD v2: 6-74354136-A-T
• gnomAD v4: 6-73644413-A-T
• MyVariant Identifiers: chr6:g.74354136A>T (hg19) ; chr6:g.73644413A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644413A>T , CM000668.2:g.73644413A>T	GRCh38
NC_000006.11:g.74354136A>T , CM000668.1:g.74354136A>T	GRCh37
NC_000006.10:g.74410857A>T	NCBI36
NG_008272.1:g.14602T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.285T>A MANE Select	ENSP00000348019.5:p.Asn95Lys
ENST00000355773.5:c.285T>A	ENSP00000348019.5:p.Asn95Lys
ENST00000481996.1:n.51T>A
NM_012434.4:c.285T>A	NP_036566.1:p.Asn95Lys
XM_005248710.2:c.234T>A	XP_005248767.1:p.Asn78Lys
XM_005248711.1:c.87T>A	XP_005248768.1:p.Asn29Lys
XM_011535750.1:c.285T>A	XP_011534052.1:p.Asn95Lys
XM_011535751.1:c.285T>A	XP_011534053.1:p.Asn95Lys
NM_012434.5:c.285T>A MANE Select	NP_036566.1:p.Asn95Lys
NM_001382629.1:c.61-2489T>A	NP_001369558.1:n.61-2489T>A
NM_001382630.1:c.285T>A	NP_001369559.1:p.Asn95Lys
NM_001382631.1:c.306T>A	NP_001369560.1:p.Asn102Lys
NM_001382632.1:c.285T>A	NP_001369561.1:p.Asn95Lys
NM_001382633.1:c.285T>A	NP_001369562.1:p.Asn95Lys
NM_001382634.1:c.285T>A	NP_001369563.1:p.Asn95Lys
NM_001382635.1:c.285T>A	NP_001369564.1:p.Asn95Lys
NM_001382636.1:c.61-2489T>A	NP_001369565.1:n.61-2489T>A