Canonical Allele Identifier: CA267594

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 100735
• ClinVar RCV Id: RCV000087101 ; RCV000622448 ; RCV001271946 ; RCV001731374 ; RCV002477258
• dbSNP Id: rs587779410
• gnomAD v2: 6-74351439-A-G
• gnomAD v3: 6-73641716-A-G
• gnomAD v4: 6-73641716-A-G
• MyVariant Identifiers: chr6:g.74351439A>G (hg19) ; chr6:g.73641716A>G (hg38)
• PubMed: PMID:6681560 ; PMID:10069709 ; PMID:10947946 ; PMID:11992753 ; PMID:15516337 ; PMID:16170568 ; PMID:19146888 ; PMID:21781115

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641716A>G , CM000668.2:g.73641716A>G	GRCh38
NC_000006.11:g.74351439A>G , CM000668.1:g.74351439A>G	GRCh37
NC_000006.10:g.74408160A>G	NCBI36
NG_008272.1:g.17299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.500T>C MANE Select	ENSP00000348019.5:p.Leu167Pro
ENST00000355773.5:c.500T>C	ENSP00000348019.5:p.Leu167Pro
ENST00000481996.1:n.266T>C
NM_012434.4:c.500T>C	NP_036566.1:p.Leu167Pro
XM_005248710.2:c.449T>C	XP_005248767.1:p.Leu150Pro
XM_005248711.1:c.302T>C	XP_005248768.1:p.Leu101Pro
XM_011535750.1:c.500T>C	XP_011534052.1:p.Leu167Pro
XM_011535751.1:c.500T>C	XP_011534053.1:p.Leu167Pro
NM_012434.5:c.500T>C MANE Select	NP_036566.1:p.Leu167Pro
NM_001382629.1:c.269T>C	NP_001369558.1:p.Leu90Pro
NM_001382630.1:c.500T>C	NP_001369559.1:p.Leu167Pro
NM_001382631.1:c.521T>C	NP_001369560.1:p.Leu174Pro
NM_001382632.1:c.500T>C	NP_001369561.1:p.Leu167Pro
NM_001382633.1:c.500T>C	NP_001369562.1:p.Leu167Pro
NM_001382634.1:c.500T>C	NP_001369563.1:p.Leu167Pro
NM_001382635.1:c.500T>C	NP_001369564.1:p.Leu167Pro
NM_001382636.1:c.269T>C	NP_001369565.1:p.Leu90Pro