Canonical Allele Identifier: CA3890387

Gene: SLC17A5

Linked Data

• dbSNP Id: rs746814110
• ExAC: 6:74331531 T / G
• gnomAD v2: 6-74331531-T-G
• MyVariant Identifiers: chr6:g.74331531T>G (hg19) ; chr6:g.73621808T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621808T>G , CM000668.2:g.73621808T>G	GRCh38
NC_000006.11:g.74331531T>G , CM000668.1:g.74331531T>G	GRCh37
NC_000006.10:g.74388252T>G	NCBI36
NG_008272.1:g.37207A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.974A>C MANE Select	ENSP00000348019.5:p.Gln325Pro
ENST00000355773.5:c.974A>C	ENSP00000348019.5:p.Gln325Pro
NM_012434.4:c.974A>C	NP_036566.1:p.Gln325Pro
XM_005248710.2:c.923A>C	XP_005248767.1:p.Gln308Pro
XM_005248711.1:c.776A>C	XP_005248768.1:p.Gln259Pro
XM_011535750.1:c.974A>C	XP_011534052.1:p.Gln325Pro
NM_012434.5:c.974A>C MANE Select	NP_036566.1:p.Gln325Pro
NM_001382629.1:c.743A>C	NP_001369558.1:p.Gln248Pro
NM_001382630.1:c.974A>C	NP_001369559.1:p.Gln325Pro
NM_001382631.1:c.995A>C	NP_001369560.1:p.Gln332Pro
NM_001382632.1:c.887A>C	NP_001369561.1:p.Gln296Pro
NM_001382633.1:c.974A>C	NP_001369562.1:p.Gln325Pro
NM_001382634.1:c.820-6361A>C	NP_001369563.1:n.820-6361A>C
NM_001382635.1:c.971A>C	NP_001369564.1:p.Gln324Pro
NM_001382636.1:c.656A>C	NP_001369565.1:p.Gln219Pro