Canonical Allele Identifier: CA364719190

Gene: SLC17A5

Linked Data

• dbSNP Id: rs200139054
• gnomAD v2: 6-74354251-C-A
• gnomAD v4: 6-73644528-C-A
• MyVariant Identifiers: chr6:g.74354251C>A (hg19) ; chr6:g.73644528C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644528C>A , CM000668.2:g.73644528C>A	GRCh38
NC_000006.11:g.74354251C>A , CM000668.1:g.74354251C>A	GRCh37
NC_000006.10:g.74410972C>A	NCBI36
NG_008272.1:g.14487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.170G>T MANE Select	ENSP00000348019.5:p.Arg57Leu
ENST00000355773.5:c.170G>T	ENSP00000348019.5:p.Arg57Leu
NM_012434.4:c.170G>T	NP_036566.1:p.Arg57Leu
XM_005248710.2:c.119G>T	XP_005248767.1:p.Arg40Leu
XM_005248711.1:c.-29G>T	XP_005248768.1:n.-29G>T
XM_011535750.1:c.170G>T	XP_011534052.1:p.Arg57Leu
XM_011535751.1:c.170G>T	XP_011534053.1:p.Arg57Leu
NM_012434.5:c.170G>T MANE Select	NP_036566.1:p.Arg57Leu
NM_001382629.1:c.61-2604G>T	NP_001369558.1:n.61-2604G>T
NM_001382630.1:c.170G>T	NP_001369559.1:p.Arg57Leu
NM_001382631.1:c.191G>T	NP_001369560.1:p.Arg64Leu
NM_001382632.1:c.170G>T	NP_001369561.1:p.Arg57Leu
NM_001382633.1:c.170G>T	NP_001369562.1:p.Arg57Leu
NM_001382634.1:c.170G>T	NP_001369563.1:p.Arg57Leu
NM_001382635.1:c.170G>T	NP_001369564.1:p.Arg57Leu
NM_001382636.1:c.61-2604G>T	NP_001369565.1:n.61-2604G>T