Canonical Allele Identifier: CA364720942

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74320156C>A (hg19) ; chr6:g.73610433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610433C>A , CM000668.2:g.73610433C>A	GRCh38
NC_000006.11:g.74320156C>A , CM000668.1:g.74320156C>A	GRCh37
NC_000006.10:g.74376877C>A	NCBI36
NG_008272.1:g.48582G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1226G>T MANE Select	ENSP00000348019.5:p.Gly409Val
ENST00000355773.5:c.1226G>T	ENSP00000348019.5:p.Gly409Val
NM_012434.4:c.1226G>T	NP_036566.1:p.Gly409Val
XM_005248710.2:c.1175G>T	XP_005248767.1:p.Gly392Val
XM_005248711.1:c.1028G>T	XP_005248768.1:p.Gly343Val
XM_011535750.1:c.1111+4882G>T	XP_011534052.1:n.1111+4882G>T
NM_012434.5:c.1226G>T MANE Select	NP_036566.1:p.Gly409Val
NM_001382629.1:c.995G>T	NP_001369558.1:p.Gly332Val
NM_001382630.1:c.1226G>T	NP_001369559.1:p.Gly409Val
NM_001382631.1:c.1247G>T	NP_001369560.1:p.Gly416Val
NM_001382632.1:c.1139G>T	NP_001369561.1:p.Gly380Val
NM_001382633.1:c.1226G>T	NP_001369562.1:p.Gly409Val
NM_001382634.1:c.1067G>T	NP_001369563.1:p.Gly356Val
NM_001382635.1:c.1223G>T	NP_001369564.1:p.Gly408Val
NM_001382636.1:c.908G>T	NP_001369565.1:p.Gly303Val