Canonical Allele Identifier: CA364720079

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310150A>T (hg19) ; chr6:g.73600427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600427A>T , CM000668.2:g.73600427A>T	GRCh38
NC_000006.11:g.74310150A>T , CM000668.1:g.74310150A>T	GRCh37
NC_000006.10:g.74366871A>T	NCBI36
NG_008272.1:g.58588T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1274T>A MANE Select	ENSP00000348019.5:p.Leu425His
ENST00000355773.5:c.1274T>A	ENSP00000348019.5:p.Leu425His
NM_012434.4:c.1274T>A	NP_036566.1:p.Leu425His
XM_005248710.2:c.1223T>A	XP_005248767.1:p.Leu408His
XM_005248711.1:c.1076T>A	XP_005248768.1:p.Leu359His
XM_011535750.1:c.1126T>A	XP_011534052.1:p.Ser376Thr
NM_012434.5:c.1274T>A MANE Select	NP_036566.1:p.Leu425His
NM_001382629.1:c.1043T>A	NP_001369558.1:p.Leu348His
NM_001382630.1:c.1260-5213T>A	NP_001369559.1:n.1260-5213T>A
NM_001382631.1:c.1295T>A	NP_001369560.1:p.Leu432His
NM_001382632.1:c.1187T>A	NP_001369561.1:p.Leu396His
NM_001382633.1:c.1274T>A	NP_001369562.1:p.Leu425His
NM_001382634.1:c.1115T>A	NP_001369563.1:p.Leu372His
NM_001382635.1:c.1271T>A	NP_001369564.1:p.Leu424His
NM_001382636.1:c.956T>A	NP_001369565.1:p.Leu319His