Canonical Allele Identifier: CA381125572

Gene: SLC22A12

Linked Data

• MyVariant Identifiers: chr11:g.64366008G>T (hg19) ; chr11:g.64598536G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598536G>T , CM000673.2:g.64598536G>T	GRCh38
NC_000011.9:g.64366008G>T , CM000673.1:g.64366008G>T	GRCh37
NC_000011.8:g.64122584G>T	NCBI36
NG_008110.1:g.12727G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.851G>T MANE Select	ENSP00000366797.1:p.Arg284Leu
ENST00000336464.7:c.749G>T	ENSP00000336836.7:p.Arg250Leu
ENST00000377567.6:c.527G>T	ENSP00000366790.2:p.Arg176Leu
ENST00000377572.5:c.527G>T	ENSP00000366795.1:p.Arg176Leu
ENST00000377574.5:c.851G>T	ENSP00000366797.1:p.Arg284Leu
ENST00000473690.5:c.188G>T	ENSP00000438437.1:p.Arg63Leu
NM_001276326.1:c.749G>T	NP_001263255.1:p.Arg250Leu
NM_001276327.1:c.527G>T	NP_001263256.1:p.Arg176Leu
NM_144585.3:c.851G>T	NP_653186.2:p.Arg284Leu
NM_153378.2:c.188G>T	NP_700357.1:p.Arg63Leu
XM_006718430.2:c.926G>T	XP_006718493.1:p.Arg309Leu
XM_006718431.2:c.821G>T	XP_006718494.1:p.Arg274Leu
XM_006718430.4:c.926G>T	XP_006718493.1:p.Arg309Leu
XM_006718431.4:c.821G>T	XP_006718494.1:p.Arg274Leu
NM_144585.4:c.851G>T MANE Select	NP_653186.2:p.Arg284Leu
NM_001276326.2:c.749G>T	NP_001263255.1:p.Arg250Leu
NM_153378.3:c.188G>T	NP_700357.1:p.Arg63Leu
NM_001276327.2:c.527G>T	NP_001263256.1:p.Arg176Leu