Canonical Allele Identifier: CA364719996

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310111A>C (hg19) ; chr6:g.73600388A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600388A>C , CM000668.2:g.73600388A>C	GRCh38
NC_000006.11:g.74310111A>C , CM000668.1:g.74310111A>C	GRCh37
NC_000006.10:g.74366832A>C	NCBI36
NG_008272.1:g.58627T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1313T>G MANE Select	ENSP00000348019.5:p.Met438Arg
ENST00000355773.5:c.1313T>G	ENSP00000348019.5:p.Met438Arg
NM_012434.4:c.1313T>G	NP_036566.1:p.Met438Arg
XM_005248710.2:c.1262T>G	XP_005248767.1:p.Met421Arg
XM_005248711.1:c.1115T>G	XP_005248768.1:p.Met372Arg
XM_011535750.1:c.1165T>G	XP_011534052.1:p.Trp389Gly
NM_012434.5:c.1313T>G MANE Select	NP_036566.1:p.Met438Arg
NM_001382629.1:c.1082T>G	NP_001369558.1:p.Met361Arg
NM_001382630.1:c.1260-5174T>G	NP_001369559.1:n.1260-5174T>G
NM_001382631.1:c.1334T>G	NP_001369560.1:p.Met445Arg
NM_001382632.1:c.1226T>G	NP_001369561.1:p.Met409Arg
NM_001382633.1:c.1313T>G	NP_001369562.1:p.Met438Arg
NM_001382634.1:c.1154T>G	NP_001369563.1:p.Met385Arg
NM_001382635.1:c.1310T>G	NP_001369564.1:p.Met437Arg
NM_001382636.1:c.995T>G	NP_001369565.1:p.Met332Arg