Canonical Allele Identifier: CA116866985

Gene: AMACR C1QTNF3-AMACR

Linked Data

• ClinVar Variation Id: 1404752
• ClinVar RCV Id: RCV001927817
• dbSNP Id: rs76184600
• gnomAD v4: 5-33998682-A-G
• MyVariant Identifiers: chr5:g.33998787A>G (hg19) ; chr5:g.33998682A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33998682A>G , CM000667.2:g.33998682A>G	GRCh38
NC_000005.9:g.33998787A>G , CM000667.1:g.33998787A>G	GRCh37
NC_000005.8:g.34034544A>G	NCBI36
NG_016211.1:g.14434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.698T>C (AMACR) MANE Select	ENSP00000334424.6:p.Val233Ala
ENST00000335606.10:c.698T>C (AMACR)	ENSP00000334424.6:p.Val233Ala
ENST00000382068.3:c.537T>C (AMACR)	ENSP00000477108.1:p.Cys179=
ENST00000382072.6:c.537T>C (AMACR)	ENSP00000371504.2:p.Cys179=
ENST00000382079.3:c.*124T>C (C1QTNF3-AMACR)	ENSP00000371511.3:n.*124T>C
ENST00000382085.7:c.698T>C (AMACR)	ENSP00000371517.3:p.Val233Ala
ENST00000426255.6:c.698T>C (AMACR)	ENSP00000476965.1:p.Val233Ala
ENST00000502637.5:c.653T>C (AMACR)	ENSP00000424351.1:p.Val218Ala
ENST00000506639.5:c.537T>C (AMACR)	ENSP00000427227.1:p.Cys179=
ENST00000512079.5:c.698T>C (AMACR)	ENSP00000477411.1:p.Val233Ala
ENST00000514195.1:n.549T>C (AMACR)
NM_001167595.1:c.698T>C (AMACR)	NP_001161067.1:p.Val233Ala
NM_014324.5:c.698T>C (AMACR)	NP_055139.4:p.Val233Ala
NM_203382.2:c.537T>C (AMACR)	NP_976316.1:p.Cys179=
NR_037951.1:n.1054T>C (C1QTNF3-AMACR)
NM_014324.6:c.698T>C (AMACR) MANE Select	NP_055139.4:p.Val233Ala
NM_001167595.2:c.698T>C (AMACR)	NP_001161067.1:p.Val233Ala
NM_203382.3:c.537T>C (AMACR)	NP_976316.1:p.Cys179=