Canonical Allele Identifier: CA364716429

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73636630-A-G
• MyVariant Identifiers: chr6:g.74346353A>G (hg19) ; chr6:g.73636630A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73636630A>G , CM000668.2:g.73636630A>G	GRCh38
NC_000006.11:g.74346353A>G , CM000668.1:g.74346353A>G	GRCh37
NC_000006.10:g.74403074A>G	NCBI36
NG_008272.1:g.22385T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.691T>C MANE Select	ENSP00000348019.5:p.Tyr231His
ENST00000355773.5:c.691T>C	ENSP00000348019.5:p.Tyr231His
ENST00000481996.1:n.457T>C
NM_012434.4:c.691T>C	NP_036566.1:p.Tyr231His
XM_005248710.2:c.640T>C	XP_005248767.1:p.Tyr214His
XM_005248711.1:c.493T>C	XP_005248768.1:p.Tyr165His
XM_011535750.1:c.691T>C	XP_011534052.1:p.Tyr231His
XM_011535751.1:c.691T>C	XP_011534053.1:p.Tyr231His
NM_012434.5:c.691T>C MANE Select	NP_036566.1:p.Tyr231His
NM_001382629.1:c.460T>C	NP_001369558.1:p.Tyr154His
NM_001382630.1:c.691T>C	NP_001369559.1:p.Tyr231His
NM_001382631.1:c.712T>C	NP_001369560.1:p.Tyr238His
NM_001382632.1:c.614-1130T>C	NP_001369561.1:n.614-1130T>C
NM_001382633.1:c.691T>C	NP_001369562.1:p.Tyr231His
NM_001382634.1:c.691T>C	NP_001369563.1:p.Tyr231His
NM_001382635.1:c.688T>C	NP_001369564.1:p.Tyr230His
NM_001382636.1:c.383-1130T>C	NP_001369565.1:n.383-1130T>C