Canonical Allele Identifier: CA364719997

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600388-A-G
• MyVariant Identifiers: chr6:g.74310111A>G (hg19) ; chr6:g.73600388A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1313T>C MANE Select	ENSP00000348019.5:p.Met438Thr
ENST00000355773.5:c.1313T>C	ENSP00000348019.5:p.Met438Thr
NM_012434.4:c.1313T>C	NP_036566.1:p.Met438Thr
XM_005248710.2:c.1262T>C	XP_005248767.1:p.Met421Thr
XM_005248711.1:c.1115T>C	XP_005248768.1:p.Met372Thr
XM_011535750.1:c.1165T>C	XP_011534052.1:p.Trp389Arg
NM_012434.5:c.1313T>C MANE Select	NP_036566.1:p.Met438Thr
NM_001382629.1:c.1082T>C	NP_001369558.1:p.Met361Thr
NM_001382630.1:c.1260-5174T>C	NP_001369559.1:n.1260-5174T>C
NM_001382631.1:c.1334T>C	NP_001369560.1:p.Met445Thr
NM_001382632.1:c.1226T>C	NP_001369561.1:p.Met409Thr
NM_001382633.1:c.1313T>C	NP_001369562.1:p.Met438Thr
NM_001382634.1:c.1154T>C	NP_001369563.1:p.Met385Thr
NM_001382635.1:c.1310T>C	NP_001369564.1:p.Met437Thr
NM_001382636.1:c.995T>C	NP_001369565.1:p.Met332Thr