Canonical Allele Identifier: CA364713561

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73621890-G-A
• MyVariant Identifiers: chr6:g.74331613G>A (hg19) ; chr6:g.73621890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621890G>A , CM000668.2:g.73621890G>A	GRCh38
NC_000006.11:g.74331613G>A , CM000668.1:g.74331613G>A	GRCh37
NC_000006.10:g.74388334G>A	NCBI36
NG_008272.1:g.37125C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.892C>T MANE Select	ENSP00000348019.5:p.His298Tyr
ENST00000355773.5:c.892C>T	ENSP00000348019.5:p.His298Tyr
NM_012434.4:c.892C>T	NP_036566.1:p.His298Tyr
XM_005248710.2:c.841C>T	XP_005248767.1:p.His281Tyr
XM_005248711.1:c.694C>T	XP_005248768.1:p.His232Tyr
XM_011535750.1:c.892C>T	XP_011534052.1:p.His298Tyr
NM_012434.5:c.892C>T MANE Select	NP_036566.1:p.His298Tyr
NM_001382629.1:c.661C>T	NP_001369558.1:p.His221Tyr
NM_001382630.1:c.892C>T	NP_001369559.1:p.His298Tyr
NM_001382631.1:c.913C>T	NP_001369560.1:p.His305Tyr
NM_001382632.1:c.805C>T	NP_001369561.1:p.His269Tyr
NM_001382633.1:c.892C>T	NP_001369562.1:p.His298Tyr
NM_001382634.1:c.820-6443C>T	NP_001369563.1:n.820-6443C>T
NM_001382635.1:c.889C>T	NP_001369564.1:p.His297Tyr
NM_001382636.1:c.574C>T	NP_001369565.1:p.His192Tyr