Canonical Allele Identifier: CA558971206

Gene: AMACR C1QTNF3-AMACR

Linked Data

• ClinVar Variation Id: 3036765
• ClinVar RCV Id: RCV003921787
• dbSNP Id: rs770051808
• gnomAD v2: 5-34008127-C-T
• gnomAD v4: 5-34008022-C-T
• MyVariant Identifiers: chr5:g.34008127C>T (hg19) ; chr5:g.34008022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34008022C>T , CM000667.2:g.34008022C>T	GRCh38
NC_000005.9:g.34008127C>T , CM000667.1:g.34008127C>T	GRCh37
NC_000005.8:g.34043884C>T	NCBI36
NG_016211.1:g.5094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.-3G>A (AMACR) MANE Select	ENSP00000334424.6:n.-3G>A
ENST00000335606.10:c.-3G>A (AMACR)	ENSP00000334424.6:n.-3G>A
ENST00000382068.3:c.-3G>A (AMACR)	ENSP00000477108.1:n.-3G>A
ENST00000382072.6:c.-3G>A (AMACR)	ENSP00000371504.2:n.-3G>A
ENST00000382079.3:c.690-2123G>A (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-2123G>A
ENST00000382085.7:c.-3G>A (AMACR)	ENSP00000371517.3:n.-3G>A
ENST00000426255.6:c.-3G>A (AMACR)	ENSP00000476965.1:n.-3G>A
ENST00000502637.5:c.-3G>A (AMACR)	ENSP00000424351.1:n.-3G>A
ENST00000506639.5:c.-3G>A (AMACR)	ENSP00000427227.1:n.-3G>A
ENST00000512079.5:c.-3G>A (AMACR)	ENSP00000477411.1:n.-3G>A
ENST00000514195.1:n.10G>A (AMACR)
NM_001167595.1:c.-3G>A (AMACR)	NP_001161067.1:n.-3G>A
NM_014324.5:c.-3G>A (AMACR)	NP_055139.4:n.-3G>A
NM_203382.2:c.-3G>A (AMACR)	NP_976316.1:n.-3G>A
NR_037951.1:n.765-2123G>A (C1QTNF3-AMACR)
NM_014324.6:c.-3G>A (AMACR) MANE Select	NP_055139.4:n.-3G>A
NM_001167595.2:c.-3G>A (AMACR)	NP_001161067.1:n.-3G>A
NM_203382.3:c.-3G>A (AMACR)	NP_976316.1:n.-3G>A