Canonical Allele Identifier: CA3890255

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 357920
• ClinVar RCV Id: RCV000332192 ; RCV001095269 ; RCV004544679
• dbSNP Id: rs141341430
• ExAC: 6:74304856 C / T
• gnomAD v2: 6-74304856-C-T
• gnomAD v3: 6-73595133-C-T
• gnomAD v4: 6-73595133-C-T
• MyVariant Identifiers: chr6:g.74304856C>T (hg19) ; chr6:g.73595133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73595133C>T , CM000668.2:g.73595133C>T	GRCh38
NC_000006.11:g.74304856C>T , CM000668.1:g.74304856C>T	GRCh37
NC_000006.10:g.74361577C>T	NCBI36
NG_008272.1:g.63882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1432G>A MANE Select	ENSP00000348019.5:p.Ala478Thr
ENST00000355773.5:c.1432G>A	ENSP00000348019.5:p.Ala478Thr
NM_012434.4:c.1432G>A	NP_036566.1:p.Ala478Thr
XM_005248710.2:c.1381G>A	XP_005248767.1:p.Ala461Thr
XM_005248711.1:c.1234G>A	XP_005248768.1:p.Ala412Thr
XM_011535750.1:c.*90G>A	XP_011534052.1:n.*90G>A
NM_012434.5:c.1432G>A MANE Select	NP_036566.1:p.Ala478Thr
NM_001382629.1:c.1201G>A	NP_001369558.1:p.Ala401Thr
NM_001382630.1:c.1341G>A	NP_001369559.1:p.Ser447=
NM_001382631.1:c.1453G>A	NP_001369560.1:p.Ala485Thr
NM_001382632.1:c.1345G>A	NP_001369561.1:p.Ala449Thr
NM_001382633.1:c.1530G>A	NP_001369562.1:p.Ser510=
NM_001382634.1:c.1273G>A	NP_001369563.1:p.Ala425Thr
NM_001382635.1:c.1429G>A	NP_001369564.1:p.Ala477Thr
NM_001382636.1:c.1114G>A	NP_001369565.1:p.Ala372Thr