Canonical Allele Identifier: CA366345882

Gene: SLC22A3

Linked Data

• gnomAD v3: 6-160437056-A-T
• gnomAD v4: 6-160437056-A-T
• MyVariant Identifiers: chr6:g.160858088A>T (hg19) ; chr6:g.160437056A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437056A>T , CM000668.2:g.160437056A>T	GRCh38
NC_000006.11:g.160858088A>T , CM000668.1:g.160858088A>T	GRCh37
NC_000006.10:g.160778078A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1133A>T MANE Select	ENSP00000275300.2:p.Asn378Ile
ENST00000275300.2:c.1133A>T	ENSP00000275300.2:p.Asn378Ile
NM_021977.3:c.1133A>T	NP_068812.1:p.Asn378Ile
XM_005267106.3:c.740A>T	XP_005267163.1:p.Asn247Ile
XM_011536075.1:c.677A>T	XP_011534377.1:p.Asn226Ile
XM_011536076.1:c.677A>T	XP_011534378.1:p.Asn226Ile
XM_011536077.1:c.677A>T	XP_011534379.1:p.Asn226Ile
XR_245546.1:n.1018-5705A>T
XM_005267106.5:c.740A>T	XP_005267163.1:p.Asn247Ile
XM_011536075.2:c.677A>T	XP_011534377.1:p.Asn226Ile
XM_011536076.3:c.677A>T	XP_011534378.1:p.Asn226Ile
XM_017011203.2:c.677A>T	XP_016866692.1:p.Asn226Ile
XR_001743588.1:n.1077A>T
XR_001743589.1:n.1018-5705A>T
NM_021977.4:c.1133A>T MANE Select	NP_068812.1:p.Asn378Ile