Canonical Allele Identifier: CA364713512

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621879G>T , CM000668.2:g.73621879G>T	GRCh38
NC_000006.11:g.74331602G>T , CM000668.1:g.74331602G>T	GRCh37
NC_000006.10:g.74388323G>T	NCBI36
NG_008272.1:g.37136C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.903C>A MANE Select	NP_036566.1:p.Tyr301Ter
ENST00000355773.6:c.903C>A MANE Select	ENSP00000348019.5:p.Tyr301Ter
NM_001382629.1:c.672C>A	NP_001369558.1:p.Tyr224Ter
NM_001382630.1:c.903C>A	NP_001369559.1:p.Tyr301Ter
NM_001382631.1:c.924C>A	NP_001369560.1:p.Tyr308Ter
NM_001382632.1:c.816C>A	NP_001369561.1:p.Tyr272Ter
NM_001382633.1:c.903C>A	NP_001369562.1:p.Tyr301Ter
NM_001382634.1:c.820-6432C>A	NP_001369563.1:n.820-6432C>A
NM_001382635.1:c.900C>A	NP_001369564.1:p.Tyr300Ter
NM_001382636.1:c.585C>A	NP_001369565.1:p.Tyr195Ter
NM_012434.4:c.903C>A	NP_036566.1:p.Tyr301Ter
ENST00000355773.5:c.903C>A	ENSP00000348019.5:p.Tyr301Ter
XM_005248710.2:c.852C>A	XP_005248767.1:p.Tyr284Ter
XM_005248711.1:c.705C>A	XP_005248768.1:p.Tyr235Ter
XM_011535750.1:c.903C>A	XP_011534052.1:p.Tyr301Ter