Canonical Allele Identifier: CA364719928

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600353-C-G
• MyVariant Identifiers: chr6:g.74310076C>G (hg19) ; chr6:g.73600353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600353C>G , CM000668.2:g.73600353C>G	GRCh38
NC_000006.11:g.74310076C>G , CM000668.1:g.74310076C>G	GRCh37
NC_000006.10:g.74366797C>G	NCBI36
NG_008272.1:g.58662G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1348G>C MANE Select	ENSP00000348019.5:p.Asp450His
ENST00000355773.5:c.1348G>C	ENSP00000348019.5:p.Asp450His
NM_012434.4:c.1348G>C	NP_036566.1:p.Asp450His
XM_005248710.2:c.1297G>C	XP_005248767.1:p.Asp433His
XM_005248711.1:c.1150G>C	XP_005248768.1:p.Asp384His
XM_011535750.1:c.*6G>C	XP_011534052.1:n.*6G>C
NM_012434.5:c.1348G>C MANE Select	NP_036566.1:p.Asp450His
NM_001382629.1:c.1117G>C	NP_001369558.1:p.Asp373His
NM_001382630.1:c.1260-5139G>C	NP_001369559.1:n.1260-5139G>C
NM_001382631.1:c.1369G>C	NP_001369560.1:p.Asp457His
NM_001382632.1:c.1261G>C	NP_001369561.1:p.Asp421His
NM_001382633.1:c.1348G>C	NP_001369562.1:p.Asp450His
NM_001382634.1:c.1189G>C	NP_001369563.1:p.Asp397His
NM_001382635.1:c.1345G>C	NP_001369564.1:p.Asp449His
NM_001382636.1:c.1030G>C	NP_001369565.1:p.Asp344His