Canonical Allele Identifier: CA2673481295
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

gnomAD v4: 5-33998563-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33998563G>T , CM000667.2:g.33998563G>T GRCh38
NC_000005.9:g.33998668G>T , CM000667.1:g.33998668G>T GRCh37
NC_000005.8:g.34034425G>T NCBI36
NG_016211.1:g.14553C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000335606.11:c.739+78C>A (AMACR) MANE Select ENSP00000334424.6:n.739+78C>A
ENST00000335606.10:c.739+78C>A (AMACR) ENSP00000334424.6:n.739+78C>A
ENST00000382068.3:c.578+78C>A (AMACR) ENSP00000477108.1:n.578+78C>A
ENST00000382072.6:c.578+78C>A (AMACR) ENSP00000371504.2:n.578+78C>A
ENST00000382079.3:c.*165+78C>A (C1QTNF3-AMACR) ENSP00000371511.3:n.*165+78C>A
ENST00000382085.7:c.739+78C>A (AMACR) ENSP00000371517.3:n.739+78C>A
ENST00000426255.6:c.739+78C>A (AMACR) ENSP00000476965.1:n.739+78C>A
ENST00000502637.5:c.694+78C>A (AMACR) ENSP00000424351.1:n.694+78C>A
ENST00000506639.5:c.578+78C>A (AMACR) ENSP00000427227.1:n.578+78C>A
ENST00000512079.5:c.739+78C>A (AMACR) ENSP00000477411.1:n.739+78C>A
ENST00000514195.1:n.590+78C>A (AMACR)
NM_001167595.1:c.739+78C>A (AMACR) NP_001161067.1:n.739+78C>A
NM_014324.5:c.739+78C>A (AMACR) NP_055139.4:n.739+78C>A
NM_203382.2:c.578+78C>A (AMACR) NP_976316.1:n.578+78C>A
NR_037951.1:n.1095+78C>A (C1QTNF3-AMACR)
NM_014324.6:c.739+78C>A (AMACR) MANE Select NP_055139.4:n.739+78C>A
NM_001167595.2:c.739+78C>A (AMACR) NP_001161067.1:n.739+78C>A
NM_203382.3:c.578+78C>A (AMACR) NP_976316.1:n.578+78C>A