Canonical Allele Identifier: CA364720980

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74320166A>C (hg19) ; chr6:g.73610443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610443A>C , CM000668.2:g.73610443A>C	GRCh38
NC_000006.11:g.74320166A>C , CM000668.1:g.74320166A>C	GRCh37
NC_000006.10:g.74376887A>C	NCBI36
NG_008272.1:g.48572T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1216T>G MANE Select	ENSP00000348019.5:p.Cys406Gly
ENST00000355773.5:c.1216T>G	ENSP00000348019.5:p.Cys406Gly
NM_012434.4:c.1216T>G	NP_036566.1:p.Cys406Gly
XM_005248710.2:c.1165T>G	XP_005248767.1:p.Cys389Gly
XM_005248711.1:c.1018T>G	XP_005248768.1:p.Cys340Gly
XM_011535750.1:c.1111+4872T>G	XP_011534052.1:n.1111+4872T>G
NM_012434.5:c.1216T>G MANE Select	NP_036566.1:p.Cys406Gly
NM_001382629.1:c.985T>G	NP_001369558.1:p.Cys329Gly
NM_001382630.1:c.1216T>G	NP_001369559.1:p.Cys406Gly
NM_001382631.1:c.1237T>G	NP_001369560.1:p.Cys413Gly
NM_001382632.1:c.1129T>G	NP_001369561.1:p.Cys377Gly
NM_001382633.1:c.1216T>G	NP_001369562.1:p.Cys406Gly
NM_001382634.1:c.1057T>G	NP_001369563.1:p.Cys353Gly
NM_001382635.1:c.1213T>G	NP_001369564.1:p.Cys405Gly
NM_001382636.1:c.898T>G	NP_001369565.1:p.Cys300Gly