Canonical Allele Identifier: CA381125503

Gene: SLC22A12

Linked Data

• gnomAD v4: 11-64598530-C-A
• MyVariant Identifiers: chr11:g.64366002C>A (hg19) ; chr11:g.64598530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598530C>A , CM000673.2:g.64598530C>A	GRCh38
NC_000011.9:g.64366002C>A , CM000673.1:g.64366002C>A	GRCh37
NC_000011.8:g.64122578C>A	NCBI36
NG_008110.1:g.12721C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.845C>A MANE Select	ENSP00000366797.1:p.Ser282Ter
ENST00000336464.7:c.743C>A	ENSP00000336836.7:p.Ser248Ter
ENST00000377567.6:c.521C>A	ENSP00000366790.2:p.Ser174Ter
ENST00000377572.5:c.521C>A	ENSP00000366795.1:p.Ser174Ter
ENST00000377574.5:c.845C>A	ENSP00000366797.1:p.Ser282Ter
ENST00000473690.5:c.182C>A	ENSP00000438437.1:p.Ser61Ter
NM_001276326.1:c.743C>A	NP_001263255.1:p.Ser248Ter
NM_001276327.1:c.521C>A	NP_001263256.1:p.Ser174Ter
NM_144585.3:c.845C>A	NP_653186.2:p.Ser282Ter
NM_153378.2:c.182C>A	NP_700357.1:p.Ser61Ter
XM_006718430.2:c.920C>A	XP_006718493.1:p.Ser307Ter
XM_006718431.2:c.815C>A	XP_006718494.1:p.Ser272Ter
XM_006718430.4:c.920C>A	XP_006718493.1:p.Ser307Ter
XM_006718431.4:c.815C>A	XP_006718494.1:p.Ser272Ter
NM_144585.4:c.845C>A MANE Select	NP_653186.2:p.Ser282Ter
NM_001276326.2:c.743C>A	NP_001263255.1:p.Ser248Ter
NM_153378.3:c.182C>A	NP_700357.1:p.Ser61Ter
NM_001276327.2:c.521C>A	NP_001263256.1:p.Ser174Ter