Canonical Allele Identifier: CA1538249096

Gene: AMACR C1QTNF3-AMACR

Linked Data

• ClinVar Variation Id: 3011575
• ClinVar RCV Id: RCV003872638
• dbSNP Id: rs1754032994

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34007757C>G , CM000667.2:g.34007757C>G	GRCh38
NC_000005.9:g.34007862C>G , CM000667.1:g.34007862C>G	GRCh37
NC_000005.8:g.34043619C>G	NCBI36
NG_016211.1:g.5359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.247+16G>C (AMACR) MANE Select	ENSP00000334424.6:n.247+16G>C
ENST00000335606.10:c.247+16G>C (AMACR)	ENSP00000334424.6:n.247+16G>C
ENST00000382068.3:c.247+16G>C (AMACR)	ENSP00000477108.1:n.247+16G>C
ENST00000382072.6:c.247+16G>C (AMACR)	ENSP00000371504.2:n.247+16G>C
ENST00000382079.3:c.690-1858G>C (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-1858G>C
ENST00000382085.7:c.247+16G>C (AMACR)	ENSP00000371517.3:n.247+16G>C
ENST00000426255.6:c.247+16G>C (AMACR)	ENSP00000476965.1:n.247+16G>C
ENST00000502637.5:c.247+16G>C (AMACR)	ENSP00000424351.1:n.247+16G>C
ENST00000506639.5:c.247+16G>C (AMACR)	ENSP00000427227.1:n.247+16G>C
ENST00000512079.5:c.247+16G>C (AMACR)	ENSP00000477411.1:n.247+16G>C
ENST00000514195.1:n.259+16G>C (AMACR)
NM_001167595.1:c.247+16G>C (AMACR)	NP_001161067.1:n.247+16G>C
NM_014324.5:c.247+16G>C (AMACR)	NP_055139.4:n.247+16G>C
NM_203382.2:c.247+16G>C (AMACR)	NP_976316.1:n.247+16G>C
NR_037951.1:n.765-1858G>C (C1QTNF3-AMACR)
NM_014324.6:c.247+16G>C (AMACR) MANE Select	NP_055139.4:n.247+16G>C
NM_001167595.2:c.247+16G>C (AMACR)	NP_001161067.1:n.247+16G>C
NM_203382.3:c.247+16G>C (AMACR)	NP_976316.1:n.247+16G>C