Canonical Allele Identifier: CA359381248
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

ClinVar Variation Id: 2493707
ClinVar RCV Id: RCV003206336
dbSNP Id: rs1431283279
gnomAD v2: 5-33998781-G-A
gnomAD v3: 5-33998676-G-A
gnomAD v4: 5-33998676-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33998676G>A , CM000667.2:g.33998676G>A GRCh38
NC_000005.9:g.33998781G>A , CM000667.1:g.33998781G>A GRCh37
NC_000005.8:g.34034538G>A NCBI36
NG_016211.1:g.14440C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.11:c.704C>T (AMACR) MANE Select ENSP00000334424.6:p.Ala235Val
ENST00000335606.10:c.704C>T (AMACR) ENSP00000334424.6:p.Ala235Val
ENST00000382068.3:c.543C>T (AMACR) ENSP00000477108.1:p.Ser181=
ENST00000382072.6:c.543C>T (AMACR) ENSP00000371504.2:p.Ser181=
ENST00000382079.3:c.*130C>T (C1QTNF3-AMACR) ENSP00000371511.3:n.*130C>T
ENST00000382085.7:c.704C>T (AMACR) ENSP00000371517.3:p.Ala235Val
ENST00000426255.6:c.704C>T (AMACR) ENSP00000476965.1:p.Ala235Val
ENST00000502637.5:c.659C>T (AMACR) ENSP00000424351.1:p.Ala220Val
ENST00000506639.5:c.543C>T (AMACR) ENSP00000427227.1:p.Ser181=
ENST00000512079.5:c.704C>T (AMACR) ENSP00000477411.1:p.Ala235Val
ENST00000514195.1:n.555C>T (AMACR)
NM_001167595.1:c.704C>T (AMACR) NP_001161067.1:p.Ala235Val
NM_014324.5:c.704C>T (AMACR) NP_055139.4:p.Ala235Val
NM_203382.2:c.543C>T (AMACR) NP_976316.1:p.Ser181=
NR_037951.1:n.1060C>T (C1QTNF3-AMACR)
NM_014324.6:c.704C>T (AMACR) MANE Select NP_055139.4:p.Ala235Val
NM_001167595.2:c.704C>T (AMACR) NP_001161067.1:p.Ala235Val
NM_203382.3:c.543C>T (AMACR) NP_976316.1:p.Ser181=