Canonical Allele Identifier: CA364717883

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2157871
• ClinVar RCV Id: RCV003078317
• dbSNP Id: rs1483240831
• gnomAD v2: 6-74351434-C-G
• gnomAD v3: 6-73641711-C-G
• gnomAD v4: 6-73641711-C-G
• MyVariant Identifiers: chr6:g.74351434C>G (hg19) ; chr6:g.73641711C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641711C>G , CM000668.2:g.73641711C>G	GRCh38
NC_000006.11:g.74351434C>G , CM000668.1:g.74351434C>G	GRCh37
NC_000006.10:g.74408155C>G	NCBI36
NG_008272.1:g.17304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.505G>C MANE Select	ENSP00000348019.5:p.Ala169Pro
ENST00000355773.5:c.505G>C	ENSP00000348019.5:p.Ala169Pro
ENST00000481996.1:n.271G>C
NM_012434.4:c.505G>C	NP_036566.1:p.Ala169Pro
XM_005248710.2:c.454G>C	XP_005248767.1:p.Ala152Pro
XM_005248711.1:c.307G>C	XP_005248768.1:p.Ala103Pro
XM_011535750.1:c.505G>C	XP_011534052.1:p.Ala169Pro
XM_011535751.1:c.505G>C	XP_011534053.1:p.Ala169Pro
NM_012434.5:c.505G>C MANE Select	NP_036566.1:p.Ala169Pro
NM_001382629.1:c.274G>C	NP_001369558.1:p.Ala92Pro
NM_001382630.1:c.505G>C	NP_001369559.1:p.Ala169Pro
NM_001382631.1:c.526G>C	NP_001369560.1:p.Ala176Pro
NM_001382632.1:c.505G>C	NP_001369561.1:p.Ala169Pro
NM_001382633.1:c.505G>C	NP_001369562.1:p.Ala169Pro
NM_001382634.1:c.505G>C	NP_001369563.1:p.Ala169Pro
NM_001382635.1:c.505G>C	NP_001369564.1:p.Ala169Pro
NM_001382636.1:c.274G>C	NP_001369565.1:p.Ala92Pro