Canonical Allele Identifier: CA216370287

Gene: SLC22A18

Linked Data

• dbSNP Id: rs1017900378
• gnomAD v2: 11-2936987-C-T
• gnomAD v3: 11-2915757-C-T
• gnomAD v4: 11-2915757-C-T
• MyVariant Identifiers: chr11:g.2936987C>T (hg19) ; chr11:g.2915757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2915757C>T , CM000673.2:g.2915757C>T	GRCh38
NC_000011.9:g.2936987C>T , CM000673.1:g.2936987C>T	GRCh37
NC_000011.8:g.2893563C>T	NCBI36
NG_011512.1:g.21037C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649076.2:c.537-865C>T MANE Select	ENSP00000497561.1:n.537-865C>T
ENST00000312221.9:c.537-865C>T	ENSP00000311139.5:n.537-865C>T
ENST00000347936.6:c.537-865C>T	ENSP00000307859.2:n.537-865C>T
ENST00000380574.5:c.537-865C>T	ENSP00000369948.1:n.537-865C>T
ENST00000449793.6:c.243-865C>T	ENSP00000392072.2:n.243-865C>T
ENST00000492567.2:n.507-452C>T
NM_001315501.1:c.792-865C>T	NP_001302430.1:n.792-865C>T
NM_001315502.1:c.243-865C>T	NP_001302431.1:n.243-865C>T
NM_002555.5:c.537-865C>T	NP_002546.3:n.537-865C>T
NM_183233.2:c.537-865C>T	NP_899056.2:n.537-865C>T
XM_005252953.3:c.107+501C>T	XP_005253010.1:n.107+501C>T
XM_006718243.2:c.537-865C>T	XP_006718306.1:n.537-865C>T
XM_011520140.1:c.735-865C>T	XP_011518442.1:n.735-865C>T
XM_011520141.1:c.537-865C>T	XP_011518443.1:n.537-865C>T
XM_011520142.1:c.537-865C>T	XP_011518444.1:n.537-865C>T
XM_011520143.1:c.-443C>T	XP_011518445.1:n.-443C>T
XM_011520141.2:c.792-865C>T	XP_011518443.2:n.792-865C>T
XM_011520142.2:c.792-865C>T	XP_011518444.2:n.792-865C>T
NM_001315502.2:c.243-865C>T	NP_001302431.1:n.243-865C>T
NM_002555.6:c.537-865C>T MANE Select	NP_002546.3:n.537-865C>T
NM_183233.3:c.537-865C>T	NP_899056.2:n.537-865C>T
NM_001315501.2:c.792-865C>T	NP_001302430.1:n.792-865C>T