Canonical Allele Identifier: CA450912608

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1613665
• ClinVar RCV Id: RCV002171383
• dbSNP Id: rs373258092
• MyVariant Identifiers: chr6:g.74310104C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600381C>G , CM000668.2:g.73600381C>G	GRCh38
NC_000006.11:g.74310104C>G , CM000668.1:g.74310104C>G	GRCh37
NC_000006.10:g.74366825C>G	NCBI36
NG_008272.1:g.58634G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1320G>C MANE Select	ENSP00000348019.5:p.Gly440=
ENST00000355773.5:c.1320G>C	ENSP00000348019.5:p.Gly440=
NM_012434.4:c.1320G>C	NP_036566.1:p.Gly440=
XM_005248710.2:c.1269G>C	XP_005248767.1:p.Gly423=
XM_005248711.1:c.1122G>C	XP_005248768.1:p.Gly374=
XM_011535750.1:c.1172G>C	XP_011534052.1:p.Gly391Ala
NM_012434.5:c.1320G>C MANE Select	NP_036566.1:p.Gly440=
NM_001382629.1:c.1089G>C	NP_001369558.1:p.Gly363=
NM_001382630.1:c.1260-5167G>C	NP_001369559.1:n.1260-5167G>C
NM_001382631.1:c.1341G>C	NP_001369560.1:p.Gly447=
NM_001382632.1:c.1233G>C	NP_001369561.1:p.Gly411=
NM_001382633.1:c.1320G>C	NP_001369562.1:p.Gly440=
NM_001382634.1:c.1161G>C	NP_001369563.1:p.Gly387=
NM_001382635.1:c.1317G>C	NP_001369564.1:p.Gly439=
NM_001382636.1:c.1002G>C	NP_001369565.1:p.Gly334=