Canonical Allele Identifier: CA1538240357
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33998663C= , CM000667.2:g.33998663C= GRCh38
NC_000005.9:g.33998768C= , CM000667.1:g.33998768C= GRCh37
NC_000005.8:g.34034525C= NCBI36
NG_016211.1:g.14453G=

Transcript Alleles

HGVS Amino-acid Change
NM_014324.6:c.717G= (AMACR) MANE Select NP_055139.4:p.Gln239=
ENST00000335606.11:c.717G= (AMACR) MANE Select ENSP00000334424.6:p.Gln239=
NM_001167595.1:c.717G= (AMACR) NP_001161067.1:p.Gln239=
NM_001167595.2:c.717G= (AMACR) NP_001161067.1:p.Gln239=
NM_014324.5:c.717G= (AMACR) NP_055139.4:p.Gln239=
NM_203382.2:c.556G= (AMACR) NP_976316.1:p.Val186=
NM_203382.3:c.556G= (AMACR) NP_976316.1:p.Val186=
NR_037951.1:n.1073G= (C1QTNF3-AMACR)
ENST00000335606.10:c.717G= (AMACR) ENSP00000334424.6:p.Gln239=
ENST00000382068.3:c.556G= (AMACR) ENSP00000477108.1:p.Val186=
ENST00000382072.6:c.556G= (AMACR) ENSP00000371504.2:p.Val186=
ENST00000382079.3:c.*143G= (C1QTNF3-AMACR) ENSP00000371511.3:n.*143G=
ENST00000382085.7:c.717G= (AMACR) ENSP00000371517.3:p.Gln239=
ENST00000426255.6:c.717G= (AMACR) ENSP00000476965.1:p.Gln239=
ENST00000502637.5:c.672G= (AMACR) ENSP00000424351.1:p.Gln224=
ENST00000506639.5:c.556G= (AMACR) ENSP00000427227.1:p.Val186=
ENST00000512079.5:c.717G= (AMACR) ENSP00000477411.1:p.Gln239=
ENST00000514195.1:n.568G= (AMACR)