Canonical Allele Identifier: CA12435433
Gene: SLC17A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.25798704G>A
GRCh37 chr6:g.25798932G>A
gnomAD v2:
6:25798932 G / A
gnomAD v3:
6:25798704 G / A
gnomAD v4:
chr6-25798704-G-A
Joint Max Group AF 0.87471613 (AFR)
Genomes Max Group AF 0.86589931 (AFR)
Exomes Max Group AF 0.8820006 (AFR)
dbSNP:
1165215
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25798704G>A , CM000668.2:g.25798704G>A GRCh38
NC_000006.11:g.25798932G>A , CM000668.1:g.25798932G>A GRCh37
NC_000006.10:g.25906911G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244527.10:c.*2+79C>T MANE Select ENSP00000244527.4:n.*2+79C>T
ENST00000244527.8:c.*2+79C>T ENSP00000244527.4:n.*2+79C>T
ENST00000377886.6:c.*657+79C>T ENSP00000367118.2:n.*657+79C>T
ENST00000476801.5:c.*81C>T ENSP00000420614.1:n.*81C>T
NM_005074.3:c.*2+79C>T NP_005065.2:n.*2+79C>T
XM_011514818.1:c.1178+12694C>T XP_011513120.1:n.1178+12694C>T
XM_011514819.1:c.*81C>T XP_011513121.1:n.*81C>T
XM_011514820.1:c.*81C>T XP_011513122.1:n.*81C>T
XM_011514821.1:c.*81C>T XP_011513123.1:n.*81C>T
XM_011514818.2:c.1328+12694C>T XP_011513120.2:n.1328+12694C>T
XM_011514819.2:c.*81C>T XP_011513121.2:n.*81C>T
XM_011514820.2:c.*81C>T XP_011513122.2:n.*81C>T
XM_011514821.2:c.*81C>T XP_011513123.1:n.*81C>T
XM_017011199.1:c.*81C>T XP_016866688.1:n.*81C>T
XM_017011200.1:c.*2+79C>T XP_016866689.1:n.*2+79C>T
XM_017011201.2:c.*2+79C>T XP_016866690.1:n.*2+79C>T
XM_017011202.1:c.*81C>T XP_016866691.1:n.*81C>T
NM_005074.5:c.*2+79C>T MANE Select NP_005065.2:n.*2+79C>T
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