Canonical Allele Identifier: CA474956147

Gene: SLC22A12

Linked Data

• dbSNP Id: rs1472932741
• gnomAD v2: 11-64366043-C-T
• MyVariant Identifiers: chr11:g.64366043C>T (hg19) ; chr11:g.64598571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598571C>T , CM000673.2:g.64598571C>T	GRCh38
NC_000011.9:g.64366043C>T , CM000673.1:g.64366043C>T	GRCh37
NC_000011.8:g.64122619C>T	NCBI36
NG_008110.1:g.12762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.886C>T MANE Select	ENSP00000366797.1:p.Leu296=
ENST00000336464.7:c.784C>T	ENSP00000336836.7:p.Leu262=
ENST00000377567.6:c.562C>T	ENSP00000366790.2:p.Leu188=
ENST00000377572.5:c.562C>T	ENSP00000366795.1:p.Leu188=
ENST00000377574.5:c.886C>T	ENSP00000366797.1:p.Leu296=
ENST00000473690.5:c.223C>T	ENSP00000438437.1:p.Leu75=
NM_001276326.1:c.784C>T	NP_001263255.1:p.Leu262=
NM_001276327.1:c.562C>T	NP_001263256.1:p.Leu188=
NM_144585.3:c.886C>T	NP_653186.2:p.Leu296=
NM_153378.2:c.223C>T	NP_700357.1:p.Leu75=
XM_006718430.2:c.961C>T	XP_006718493.1:p.Leu321=
XM_006718431.2:c.856C>T	XP_006718494.1:p.Leu286=
XM_006718430.4:c.961C>T	XP_006718493.1:p.Leu321=
XM_006718431.4:c.856C>T	XP_006718494.1:p.Leu286=
NM_144585.4:c.886C>T MANE Select	NP_653186.2:p.Leu296=
NM_001276326.2:c.784C>T	NP_001263255.1:p.Leu262=
NM_153378.3:c.223C>T	NP_700357.1:p.Leu75=
NM_001276327.2:c.562C>T	NP_001263256.1:p.Leu188=