Canonical Allele Identifier: CA16618305

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 420186
• ClinVar RCV Id: RCV000485108 ; RCV001865447
• dbSNP Id: rs1064794334
• MyVariant Identifiers: chr6:g.74320121A>G (hg19) ; chr6:g.73610398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610398A>G , CM000668.2:g.73610398A>G	GRCh38
NC_000006.11:g.74320121A>G , CM000668.1:g.74320121A>G	GRCh37
NC_000006.10:g.74376842A>G	NCBI36
NG_008272.1:g.48617T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1259+2T>C MANE Select	ENSP00000348019.5:n.1259+2T>C
ENST00000355773.5:c.1259+2T>C	ENSP00000348019.5:n.1259+2T>C
NM_012434.4:c.1259+2T>C	NP_036566.1:n.1259+2T>C
XM_005248710.2:c.1208+2T>C	XP_005248767.1:n.1208+2T>C
XM_005248711.1:c.1061+2T>C	XP_005248768.1:n.1061+2T>C
XM_011535750.1:c.1111+4917T>C	XP_011534052.1:n.1111+4917T>C
NM_012434.5:c.1259+2T>C MANE Select	NP_036566.1:n.1259+2T>C
NM_001382629.1:c.1028+2T>C	NP_001369558.1:n.1028+2T>C
NM_001382630.1:c.1259+2T>C	NP_001369559.1:n.1259+2T>C
NM_001382631.1:c.1280+2T>C	NP_001369560.1:n.1280+2T>C
NM_001382632.1:c.1172+2T>C	NP_001369561.1:n.1172+2T>C
NM_001382633.1:c.1259+2T>C	NP_001369562.1:n.1259+2T>C
NM_001382634.1:c.1100+2T>C	NP_001369563.1:n.1100+2T>C
NM_001382635.1:c.1256+2T>C	NP_001369564.1:n.1256+2T>C
NM_001382636.1:c.941+2T>C	NP_001369565.1:n.941+2T>C