Canonical Allele Identifier: CA3890547

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2794140
• ClinVar RCV Id: RCV003614421
• dbSNP Id: rs763827160
• ExAC: 6:74351579 G / T
• gnomAD v2: 6-74351579-G-T
• gnomAD v4: 6-73641856-G-T
• MyVariant Identifiers: chr6:g.74351579G>T (hg19) ; chr6:g.73641856G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641856G>T , CM000668.2:g.73641856G>T	GRCh38
NC_000006.11:g.74351579G>T , CM000668.1:g.74351579G>T	GRCh37
NC_000006.10:g.74408300G>T	NCBI36
NG_008272.1:g.17159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.360C>A MANE Select	ENSP00000348019.5:p.Ile120=
ENST00000355773.5:c.360C>A	ENSP00000348019.5:p.Ile120=
ENST00000481996.1:n.126C>A
NM_012434.4:c.360C>A	NP_036566.1:p.Ile120=
XM_005248710.2:c.309C>A	XP_005248767.1:p.Ile103=
XM_005248711.1:c.162C>A	XP_005248768.1:p.Ile54=
XM_011535750.1:c.360C>A	XP_011534052.1:p.Ile120=
XM_011535751.1:c.360C>A	XP_011534053.1:p.Ile120=
NM_012434.5:c.360C>A MANE Select	NP_036566.1:p.Ile120=
NM_001382629.1:c.129C>A	NP_001369558.1:p.Ile43=
NM_001382630.1:c.360C>A	NP_001369559.1:p.Ile120=
NM_001382631.1:c.381C>A	NP_001369560.1:p.Ile127=
NM_001382632.1:c.360C>A	NP_001369561.1:p.Ile120=
NM_001382633.1:c.360C>A	NP_001369562.1:p.Ile120=
NM_001382634.1:c.360C>A	NP_001369563.1:p.Ile120=
NM_001382635.1:c.360C>A	NP_001369564.1:p.Ile120=
NM_001382636.1:c.129C>A	NP_001369565.1:p.Ile43=