Canonical Allele Identifier: CA364713739

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621953G>A , CM000668.2:g.73621953G>A	GRCh38
NC_000006.11:g.74331676G>A , CM000668.1:g.74331676G>A	GRCh37
NC_000006.10:g.74388397G>A	NCBI36
NG_008272.1:g.37062C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.829C>T MANE Select	NP_036566.1:p.Gln277Ter
ENST00000355773.6:c.829C>T MANE Select	ENSP00000348019.5:p.Gln277Ter
NM_001382629.1:c.598C>T	NP_001369558.1:p.Gln200Ter
NM_001382630.1:c.829C>T	NP_001369559.1:p.Gln277Ter
NM_001382631.1:c.850C>T	NP_001369560.1:p.Gln284Ter
NM_001382632.1:c.742C>T	NP_001369561.1:p.Gln248Ter
NM_001382633.1:c.829C>T	NP_001369562.1:p.Gln277Ter
NM_001382634.1:c.820-6506C>T	NP_001369563.1:n.820-6506C>T
NM_001382635.1:c.826C>T	NP_001369564.1:p.Gln276Ter
NM_001382636.1:c.511C>T	NP_001369565.1:p.Gln171Ter
NM_012434.4:c.829C>T	NP_036566.1:p.Gln277Ter
ENST00000355773.5:c.829C>T	ENSP00000348019.5:p.Gln277Ter
XM_005248710.2:c.778C>T	XP_005248767.1:p.Gln260Ter
XM_005248711.1:c.631C>T	XP_005248768.1:p.Gln211Ter
XM_011535750.1:c.829C>T	XP_011534052.1:p.Gln277Ter