Canonical Allele Identifier: CA364712386

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73615425G>A , CM000668.2:g.73615425G>A	GRCh38
NC_000006.11:g.74325148G>A , CM000668.1:g.74325148G>A	GRCh37
NC_000006.10:g.74381869G>A	NCBI36
NG_008272.1:g.43590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1001C>T MANE Select	ENSP00000348019.5:p.Pro334Leu
ENST00000355773.5:c.1001C>T	ENSP00000348019.5:p.Pro334Leu
NM_012434.4:c.1001C>T	NP_036566.1:p.Pro334Leu
XM_005248710.2:c.950C>T	XP_005248767.1:p.Pro317Leu
XM_005248711.1:c.803C>T	XP_005248768.1:p.Pro268Leu
XM_011535750.1:c.1001C>T	XP_011534052.1:p.Pro334Leu
NM_012434.5:c.1001C>T MANE Select	NP_036566.1:p.Pro334Leu
NM_001382629.1:c.770C>T	NP_001369558.1:p.Pro257Leu
NM_001382630.1:c.1001C>T	NP_001369559.1:p.Pro334Leu
NM_001382631.1:c.1022C>T	NP_001369560.1:p.Pro341Leu
NM_001382632.1:c.914C>T	NP_001369561.1:p.Pro305Leu
NM_001382633.1:c.1001C>T	NP_001369562.1:p.Pro334Leu
NM_001382634.1:c.842C>T	NP_001369563.1:p.Pro281Leu
NM_001382635.1:c.998C>T	NP_001369564.1:p.Pro333Leu
NM_001382636.1:c.683C>T	NP_001369565.1:p.Pro228Leu