Canonical Allele Identifier: CA827975030

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1212549500
• gnomAD v3: 6-73642061-T-G
• gnomAD v4: 6-73642061-T-G
• MyVariant Identifiers: chr6:g.74351784T>G (hg19) ; chr6:g.73642061T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73642061T>G , CM000668.2:g.73642061T>G	GRCh38
NC_000006.11:g.74351784T>G , CM000668.1:g.74351784T>G	GRCh37
NC_000006.10:g.74408505T>G	NCBI36
NG_008272.1:g.16954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.292-137A>C MANE Select	ENSP00000348019.5:n.292-137A>C
ENST00000355773.5:c.292-137A>C	ENSP00000348019.5:n.292-137A>C
ENST00000481996.1:n.58-137A>C
NM_012434.4:c.292-137A>C	NP_036566.1:n.292-137A>C
XM_005248710.2:c.241-137A>C	XP_005248767.1:n.241-137A>C
XM_005248711.1:c.94-137A>C	XP_005248768.1:n.94-137A>C
XM_011535750.1:c.292-137A>C	XP_011534052.1:n.292-137A>C
XM_011535751.1:c.292-137A>C	XP_011534053.1:n.292-137A>C
NM_012434.5:c.292-137A>C MANE Select	NP_036566.1:n.292-137A>C
NM_001382629.1:c.61-137A>C	NP_001369558.1:n.61-137A>C
NM_001382630.1:c.292-137A>C	NP_001369559.1:n.292-137A>C
NM_001382631.1:c.313-137A>C	NP_001369560.1:n.313-137A>C
NM_001382632.1:c.292-137A>C	NP_001369561.1:n.292-137A>C
NM_001382633.1:c.292-137A>C	NP_001369562.1:n.292-137A>C
NM_001382634.1:c.292-137A>C	NP_001369563.1:n.292-137A>C
NM_001382635.1:c.292-137A>C	NP_001369564.1:n.292-137A>C
NM_001382636.1:c.61-137A>C	NP_001369565.1:n.61-137A>C