Canonical Allele Identifier: CA364715752

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73635392A>T , CM000668.2:g.73635392A>T	GRCh38
NC_000006.11:g.74345115A>T , CM000668.1:g.74345115A>T	GRCh37
NC_000006.10:g.74401836A>T	NCBI36
NG_008272.1:g.23623T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.809T>A MANE Select	NP_036566.1:p.Leu270Ter
ENST00000355773.6:c.809T>A MANE Select	ENSP00000348019.5:p.Leu270Ter
NM_001382629.1:c.578T>A	NP_001369558.1:p.Leu193Ter
NM_001382630.1:c.809T>A	NP_001369559.1:p.Leu270Ter
NM_001382631.1:c.830T>A	NP_001369560.1:p.Leu277Ter
NM_001382632.1:c.722T>A	NP_001369561.1:p.Leu241Ter
NM_001382633.1:c.809T>A	NP_001369562.1:p.Leu270Ter
NM_001382634.1:c.809T>A	NP_001369563.1:p.Leu270Ter
NM_001382635.1:c.806T>A	NP_001369564.1:p.Leu269Ter
NM_001382636.1:c.491T>A	NP_001369565.1:p.Leu164Ter
NM_012434.4:c.809T>A	NP_036566.1:p.Leu270Ter
ENST00000355773.5:c.809T>A	ENSP00000348019.5:p.Leu270Ter
ENST00000481996.1:n.575T>A
XM_005248710.2:c.758T>A	XP_005248767.1:p.Leu253Ter
XM_005248711.1:c.611T>A	XP_005248768.1:p.Leu204Ter
XM_011535750.1:c.809T>A	XP_011534052.1:p.Leu270Ter
XM_011535751.1:c.809T>A	XP_011534053.1:p.Leu270Ter