Canonical Allele Identifier: CA450912403

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1412016403
• gnomAD v2: 6-74354253-T-C
• gnomAD v4: 6-73644530-T-C
• COSMIC: COSM4788305
• MyVariant Identifiers: chr6:g.74354253T>C (hg19) ; chr6:g.73644530T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644530T>C , CM000668.2:g.73644530T>C	GRCh38
NC_000006.11:g.74354253T>C , CM000668.1:g.74354253T>C	GRCh37
NC_000006.10:g.74410974T>C	NCBI36
NG_008272.1:g.14485A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.168A>G MANE Select	ENSP00000348019.5:p.Leu56=
ENST00000355773.5:c.168A>G	ENSP00000348019.5:p.Leu56=
NM_012434.4:c.168A>G	NP_036566.1:p.Leu56=
XM_005248710.2:c.117A>G	XP_005248767.1:p.Leu39=
XM_005248711.1:c.-31A>G	XP_005248768.1:n.-31A>G
XM_011535750.1:c.168A>G	XP_011534052.1:p.Leu56=
XM_011535751.1:c.168A>G	XP_011534053.1:p.Leu56=
NM_012434.5:c.168A>G MANE Select	NP_036566.1:p.Leu56=
NM_001382629.1:c.61-2606A>G	NP_001369558.1:n.61-2606A>G
NM_001382630.1:c.168A>G	NP_001369559.1:p.Leu56=
NM_001382631.1:c.189A>G	NP_001369560.1:p.Leu63=
NM_001382632.1:c.168A>G	NP_001369561.1:p.Leu56=
NM_001382633.1:c.168A>G	NP_001369562.1:p.Leu56=
NM_001382634.1:c.168A>G	NP_001369563.1:p.Leu56=
NM_001382635.1:c.168A>G	NP_001369564.1:p.Leu56=
NM_001382636.1:c.61-2606A>G	NP_001369565.1:n.61-2606A>G