Canonical Allele Identifier: CA140972019

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1036534455
• gnomAD v2: 6-74310003-A-T
• gnomAD v3: 6-73600280-A-T
• gnomAD v4: 6-73600280-A-T
• MyVariant Identifiers: chr6:g.74310003A>T (hg19) ; chr6:g.73600280A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600280A>T , CM000668.2:g.73600280A>T	GRCh38
NC_000006.11:g.74310003A>T , CM000668.1:g.74310003A>T	GRCh37
NC_000006.10:g.74366724A>T	NCBI36
NG_008272.1:g.58735T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1350+71T>A MANE Select	ENSP00000348019.5:n.1350+71T>A
ENST00000355773.5:c.1350+71T>A	ENSP00000348019.5:n.1350+71T>A
NM_012434.4:c.1350+71T>A	NP_036566.1:n.1350+71T>A
XM_005248710.2:c.1299+71T>A	XP_005248767.1:n.1299+71T>A
XM_005248711.1:c.1152+71T>A	XP_005248768.1:n.1152+71T>A
XM_011535750.1:c.*8+71T>A	XP_011534052.1:n.*8+71T>A
NM_012434.5:c.1350+71T>A MANE Select	NP_036566.1:n.1350+71T>A
NM_001382629.1:c.1119+71T>A	NP_001369558.1:n.1119+71T>A
NM_001382630.1:c.1260-5066T>A	NP_001369559.1:n.1260-5066T>A
NM_001382631.1:c.1371+71T>A	NP_001369560.1:n.1371+71T>A
NM_001382632.1:c.1263+71T>A	NP_001369561.1:n.1263+71T>A
NM_001382633.1:c.1350+71T>A	NP_001369562.1:n.1350+71T>A
NM_001382634.1:c.1191+71T>A	NP_001369563.1:n.1191+71T>A
NM_001382635.1:c.1347+71T>A	NP_001369564.1:n.1347+71T>A
NM_001382636.1:c.1032+71T>A	NP_001369565.1:n.1032+71T>A