Canonical Allele Identifier: CA3226143
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

ClinVar Variation Id: 2196649
ClinVar RCV Id: RCV002651133
dbSNP Id: rs748564160
gnomAD v2: 5-33998796-A-T
gnomAD v3: 5-33998691-A-T
gnomAD v4: 5-33998691-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33998691A>T , CM000667.2:g.33998691A>T GRCh38
NC_000005.9:g.33998796A>T , CM000667.1:g.33998796A>T GRCh37
NC_000005.8:g.34034553A>T NCBI36
NG_016211.1:g.14425T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.11:c.689T>A (AMACR) MANE Select ENSP00000334424.6:p.Phe230Tyr
ENST00000335606.10:c.689T>A (AMACR) ENSP00000334424.6:p.Phe230Tyr
ENST00000382068.3:c.528T>A (AMACR) ENSP00000477108.1:p.Ile176=
ENST00000382072.6:c.528T>A (AMACR) ENSP00000371504.2:p.Ile176=
ENST00000382079.3:c.*115T>A (C1QTNF3-AMACR) ENSP00000371511.3:n.*115T>A
ENST00000382085.7:c.689T>A (AMACR) ENSP00000371517.3:p.Phe230Tyr
ENST00000426255.6:c.689T>A (AMACR) ENSP00000476965.1:p.Phe230Tyr
ENST00000502637.5:c.644T>A (AMACR) ENSP00000424351.1:p.Phe215Tyr
ENST00000506639.5:c.528T>A (AMACR) ENSP00000427227.1:p.Ile176=
ENST00000512079.5:c.689T>A (AMACR) ENSP00000477411.1:p.Phe230Tyr
ENST00000514195.1:n.540T>A (AMACR)
NM_001167595.1:c.689T>A (AMACR) NP_001161067.1:p.Phe230Tyr
NM_014324.5:c.689T>A (AMACR) NP_055139.4:p.Phe230Tyr
NM_203382.2:c.528T>A (AMACR) NP_976316.1:p.Ile176=
NR_037951.1:n.1045T>A (C1QTNF3-AMACR)
NM_014324.6:c.689T>A (AMACR) MANE Select NP_055139.4:p.Phe230Tyr
NM_001167595.2:c.689T>A (AMACR) NP_001161067.1:p.Phe230Tyr
NM_203382.3:c.528T>A (AMACR) NP_976316.1:p.Ile176=