Canonical Allele Identifier: CA3226316

Gene: AMACR C1QTNF3-AMACR

Linked Data

• dbSNP Id: rs749348579
• ExAC: 5:34008135 A / C
• gnomAD v2: 5-34008135-A-C
• gnomAD v3: 5-34008030-A-C
• gnomAD v4: 5-34008030-A-C
• MyVariant Identifiers: chr5:g.34008135A>C (hg19) ; chr5:g.34008030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34008030A>C , CM000667.2:g.34008030A>C	GRCh38
NC_000005.9:g.34008135A>C , CM000667.1:g.34008135A>C	GRCh37
NC_000005.8:g.34043892A>C	NCBI36
NG_016211.1:g.5086T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.-11T>G (AMACR) MANE Select	ENSP00000334424.6:n.-11T>G
ENST00000335606.10:c.-11T>G (AMACR)	ENSP00000334424.6:n.-11T>G
ENST00000382072.6:c.-11T>G (AMACR)	ENSP00000371504.2:n.-11T>G
ENST00000382079.3:c.690-2131T>G (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-2131T>G
ENST00000426255.6:c.-11T>G (AMACR)	ENSP00000476965.1:n.-11T>G
ENST00000502637.5:c.-11T>G (AMACR)	ENSP00000424351.1:n.-11T>G
ENST00000506639.5:c.-11T>G (AMACR)	ENSP00000427227.1:n.-11T>G
ENST00000514195.1:n.2T>G (AMACR)
NM_001167595.1:c.-11T>G (AMACR)	NP_001161067.1:n.-11T>G
NM_014324.5:c.-11T>G (AMACR)	NP_055139.4:n.-11T>G
NM_203382.2:c.-11T>G (AMACR)	NP_976316.1:n.-11T>G
NR_037951.1:n.765-2131T>G (C1QTNF3-AMACR)
NM_014324.6:c.-11T>G (AMACR) MANE Select	NP_055139.4:n.-11T>G
NM_001167595.2:c.-11T>G (AMACR)	NP_001161067.1:n.-11T>G
NM_203382.3:c.-11T>G (AMACR)	NP_976316.1:n.-11T>G