Canonical Allele Identifier: CA364719988

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310106C>A (hg19) ; chr6:g.73600383C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600383C>A , CM000668.2:g.73600383C>A	GRCh38
NC_000006.11:g.74310106C>A , CM000668.1:g.74310106C>A	GRCh37
NC_000006.10:g.74366827C>A	NCBI36
NG_008272.1:g.58632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1318G>T MANE Select	ENSP00000348019.5:p.Gly440Trp
ENST00000355773.5:c.1318G>T	ENSP00000348019.5:p.Gly440Trp
NM_012434.4:c.1318G>T	NP_036566.1:p.Gly440Trp
XM_005248710.2:c.1267G>T	XP_005248767.1:p.Gly423Trp
XM_005248711.1:c.1120G>T	XP_005248768.1:p.Gly374Trp
XM_011535750.1:c.1170G>T	XP_011534052.1:p.Leu390Phe
NM_012434.5:c.1318G>T MANE Select	NP_036566.1:p.Gly440Trp
NM_001382629.1:c.1087G>T	NP_001369558.1:p.Gly363Trp
NM_001382630.1:c.1260-5169G>T	NP_001369559.1:n.1260-5169G>T
NM_001382631.1:c.1339G>T	NP_001369560.1:p.Gly447Trp
NM_001382632.1:c.1231G>T	NP_001369561.1:p.Gly411Trp
NM_001382633.1:c.1318G>T	NP_001369562.1:p.Gly440Trp
NM_001382634.1:c.1159G>T	NP_001369563.1:p.Gly387Trp
NM_001382635.1:c.1315G>T	NP_001369564.1:p.Gly439Trp
NM_001382636.1:c.1000G>T	NP_001369565.1:p.Gly334Trp