Canonical Allele Identifier: CA364719964

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310094C>A (hg19) ; chr6:g.73600371C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600371C>A , CM000668.2:g.73600371C>A	GRCh38
NC_000006.11:g.74310094C>A , CM000668.1:g.74310094C>A	GRCh37
NC_000006.10:g.74366815C>A	NCBI36
NG_008272.1:g.58644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1330G>T MANE Select	ENSP00000348019.5:p.Ala444Ser
ENST00000355773.5:c.1330G>T	ENSP00000348019.5:p.Ala444Ser
NM_012434.4:c.1330G>T	NP_036566.1:p.Ala444Ser
XM_005248710.2:c.1279G>T	XP_005248767.1:p.Ala427Ser
XM_005248711.1:c.1132G>T	XP_005248768.1:p.Ala378Ser
XM_011535750.1:c.1182G>T	XP_011534052.1:p.Leu394Phe
NM_012434.5:c.1330G>T MANE Select	NP_036566.1:p.Ala444Ser
NM_001382629.1:c.1099G>T	NP_001369558.1:p.Ala367Ser
NM_001382630.1:c.1260-5157G>T	NP_001369559.1:n.1260-5157G>T
NM_001382631.1:c.1351G>T	NP_001369560.1:p.Ala451Ser
NM_001382632.1:c.1243G>T	NP_001369561.1:p.Ala415Ser
NM_001382633.1:c.1330G>T	NP_001369562.1:p.Ala444Ser
NM_001382634.1:c.1171G>T	NP_001369563.1:p.Ala391Ser
NM_001382635.1:c.1327G>T	NP_001369564.1:p.Ala443Ser
NM_001382636.1:c.1012G>T	NP_001369565.1:p.Ala338Ser