Canonical Allele Identifier: CA381125971

Gene: SLC22A12

Linked Data

• MyVariant Identifiers: chr11:g.64366053T>A (hg19) ; chr11:g.64598581T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598581T>A , CM000673.2:g.64598581T>A	GRCh38
NC_000011.9:g.64366053T>A , CM000673.1:g.64366053T>A	GRCh37
NC_000011.8:g.64122629T>A	NCBI36
NG_008110.1:g.12772T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.896T>A MANE Select	ENSP00000366797.1:p.Leu299Gln
ENST00000336464.7:c.794T>A	ENSP00000336836.7:p.Leu265Gln
ENST00000377567.6:c.572T>A	ENSP00000366790.2:p.Leu191Gln
ENST00000377572.5:c.572T>A	ENSP00000366795.1:p.Leu191Gln
ENST00000377574.5:c.896T>A	ENSP00000366797.1:p.Leu299Gln
ENST00000473690.5:c.233T>A	ENSP00000438437.1:p.Leu78Gln
NM_001276326.1:c.794T>A	NP_001263255.1:p.Leu265Gln
NM_001276327.1:c.572T>A	NP_001263256.1:p.Leu191Gln
NM_144585.3:c.896T>A	NP_653186.2:p.Leu299Gln
NM_153378.2:c.233T>A	NP_700357.1:p.Leu78Gln
XM_006718430.2:c.971T>A	XP_006718493.1:p.Leu324Gln
XM_006718431.2:c.866T>A	XP_006718494.1:p.Leu289Gln
XM_006718430.4:c.971T>A	XP_006718493.1:p.Leu324Gln
XM_006718431.4:c.866T>A	XP_006718494.1:p.Leu289Gln
NM_144585.4:c.896T>A MANE Select	NP_653186.2:p.Leu299Gln
NM_001276326.2:c.794T>A	NP_001263255.1:p.Leu265Gln
NM_153378.3:c.233T>A	NP_700357.1:p.Leu78Gln
NM_001276327.2:c.572T>A	NP_001263256.1:p.Leu191Gln