Canonical Allele Identifier: CA359385522
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

ClinVar Variation Id: 2090294
ClinVar RCV Id: RCV003005817
dbSNP Id: rs1754054773
gnomAD v4: 5-34008016-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008016C>T , CM000667.2:g.34008016C>T GRCh38
NC_000005.9:g.34008121C>T , CM000667.1:g.34008121C>T GRCh37
NC_000005.8:g.34043878C>T NCBI36
NG_016211.1:g.5100G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.11:c.4G>A (AMACR) MANE Select ENSP00000334424.6:p.Ala2Thr
ENST00000335606.10:c.4G>A (AMACR) ENSP00000334424.6:p.Ala2Thr
ENST00000382068.3:c.4G>A (AMACR) ENSP00000477108.1:p.Ala2Thr
ENST00000382072.6:c.4G>A (AMACR) ENSP00000371504.2:p.Ala2Thr
ENST00000382079.3:c.690-2117G>A (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2117G>A
ENST00000382085.7:c.4G>A (AMACR) ENSP00000371517.3:p.Ala2Thr
ENST00000426255.6:c.4G>A (AMACR) ENSP00000476965.1:p.Ala2Thr
ENST00000502637.5:c.4G>A (AMACR) ENSP00000424351.1:p.Ala2Thr
ENST00000506639.5:c.4G>A (AMACR) ENSP00000427227.1:p.Ala2Thr
ENST00000512079.5:c.4G>A (AMACR) ENSP00000477411.1:p.Ala2Thr
ENST00000514195.1:n.16G>A (AMACR)
NM_001167595.1:c.4G>A (AMACR) NP_001161067.1:p.Ala2Thr
NM_014324.5:c.4G>A (AMACR) NP_055139.4:p.Ala2Thr
NM_203382.2:c.4G>A (AMACR) NP_976316.1:p.Ala2Thr
NR_037951.1:n.765-2117G>A (C1QTNF3-AMACR)
NM_014324.6:c.4G>A (AMACR) MANE Select NP_055139.4:p.Ala2Thr
NM_001167595.2:c.4G>A (AMACR) NP_001161067.1:p.Ala2Thr
NM_203382.3:c.4G>A (AMACR) NP_976316.1:p.Ala2Thr