Canonical Allele Identifier: CA364721187

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73610538-C-T
• MyVariant Identifiers: chr6:g.74320261C>T (hg19) ; chr6:g.73610538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610538C>T , CM000668.2:g.73610538C>T	GRCh38
NC_000006.11:g.74320261C>T , CM000668.1:g.74320261C>T	GRCh37
NC_000006.10:g.74376982C>T	NCBI36
NG_008272.1:g.48477G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1121G>A MANE Select	ENSP00000348019.5:p.Gly374Glu
ENST00000355773.5:c.1121G>A	ENSP00000348019.5:p.Gly374Glu
NM_012434.4:c.1121G>A	NP_036566.1:p.Gly374Glu
XM_005248710.2:c.1070G>A	XP_005248767.1:p.Gly357Glu
XM_005248711.1:c.923G>A	XP_005248768.1:p.Gly308Glu
XM_011535750.1:c.1111+4777G>A	XP_011534052.1:n.1111+4777G>A
NM_012434.5:c.1121G>A MANE Select	NP_036566.1:p.Gly374Glu
NM_001382629.1:c.890G>A	NP_001369558.1:p.Gly297Glu
NM_001382630.1:c.1121G>A	NP_001369559.1:p.Gly374Glu
NM_001382631.1:c.1142G>A	NP_001369560.1:p.Gly381Glu
NM_001382632.1:c.1034G>A	NP_001369561.1:p.Gly345Glu
NM_001382633.1:c.1121G>A	NP_001369562.1:p.Gly374Glu
NM_001382634.1:c.962G>A	NP_001369563.1:p.Gly321Glu
NM_001382635.1:c.1118G>A	NP_001369564.1:p.Gly373Glu
NM_001382636.1:c.803G>A	NP_001369565.1:p.Gly268Glu