Canonical Allele Identifier: CA151192132
Gene: SLC22A3 HGNC NCBI
COSMIC:
COSN14903544 (not active)
COSN17134997 (not active)
COSN17135894 (not active)
COSN17137758 (not active)
COSN17138677 (not active)
COSN17141302 (not active)
COSN17142595 (not active)
COSN17143517 (not active)
COSN17145319 (not active)
COSN17146249 (not active)
COSN17148021 (not active)
COSN17149840 (not active)
MyVariant.info:
GRCh38 chr6:g.160419220G>T
GRCh37 chr6:g.160840252G>T
gnomAD v2:
6:160840252 G / T
gnomAD v3:
6:160419220 G / T
gnomAD v4:
chr6-160419220-G-T
Joint Max Group AF 0.32524525 (NFE)
Genomes Max Group AF 0.32524525 (NFE)
dbSNP:
7758229
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160419220G>T , CM000668.2:g.160419220G>T GRCh38
NC_000006.11:g.160840252G>T , CM000668.1:g.160840252G>T GRCh37
NC_000006.10:g.160760242G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.975+8374G>T MANE Select ENSP00000275300.2:n.975+8374G>T
ENST00000275300.2:c.975+8374G>T ENSP00000275300.2:n.975+8374G>T
NM_021977.3:c.975+8374G>T NP_068812.1:n.975+8374G>T
XM_005267106.3:c.582+8374G>T XP_005267163.1:n.582+8374G>T
XM_005267107.2:c.976-6631G>T XP_005267164.1:n.976-6631G>T
XM_011536075.1:c.519+8374G>T XP_011534377.1:n.519+8374G>T
XM_011536076.1:c.519+8374G>T XP_011534378.1:n.519+8374G>T
XM_011536077.1:c.519+8374G>T XP_011534379.1:n.519+8374G>T
XM_011536078.1:c.975+8374G>T XP_011534380.1:n.975+8374G>T
XR_245546.1:n.1017+8374G>T
XM_005267106.5:c.582+8374G>T XP_005267163.1:n.582+8374G>T
XM_005267107.3:c.976-6631G>T XP_005267164.1:n.976-6631G>T
XM_011536075.2:c.519+8374G>T XP_011534377.1:n.519+8374G>T
XM_011536076.3:c.519+8374G>T XP_011534378.1:n.519+8374G>T
XM_017011203.2:c.519+8374G>T XP_016866692.1:n.519+8374G>T
XR_001743588.1:n.1017+8374G>T
XR_001743589.1:n.1017+8374G>T
NM_021977.4:c.975+8374G>T MANE Select NP_068812.1:n.975+8374G>T
Search 100 bp 5'
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