Canonical Allele Identifier: CA4085120

Gene: SLC22A3

Linked Data

• dbSNP Id: rs757604724
• ExAC: 6:160857980 T / C
• gnomAD v2: 6-160857980-T-C
• gnomAD v4: 6-160436948-T-C
• MyVariant Identifiers: chr6:g.160857980T>C (hg19) ; chr6:g.160436948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160436948T>C , CM000668.2:g.160436948T>C	GRCh38
NC_000006.11:g.160857980T>C , CM000668.1:g.160857980T>C	GRCh37
NC_000006.10:g.160777970T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1074-49T>C MANE Select	ENSP00000275300.2:n.1074-49T>C
ENST00000275300.2:c.1074-49T>C	ENSP00000275300.2:n.1074-49T>C
NM_021977.3:c.1074-49T>C	NP_068812.1:n.1074-49T>C
XM_005267106.3:c.681-49T>C	XP_005267163.1:n.681-49T>C
XM_011536075.1:c.618-49T>C	XP_011534377.1:n.618-49T>C
XM_011536076.1:c.618-49T>C	XP_011534378.1:n.618-49T>C
XM_011536077.1:c.618-49T>C	XP_011534379.1:n.618-49T>C
XR_245546.1:n.1018-5813T>C
XM_005267106.5:c.681-49T>C	XP_005267163.1:n.681-49T>C
XM_011536075.2:c.618-49T>C	XP_011534377.1:n.618-49T>C
XM_011536076.3:c.618-49T>C	XP_011534378.1:n.618-49T>C
XM_017011203.2:c.618-49T>C	XP_016866692.1:n.618-49T>C
XR_001743588.1:n.1018-49T>C
XR_001743589.1:n.1018-5813T>C
NM_021977.4:c.1074-49T>C MANE Select	NP_068812.1:n.1074-49T>C