Canonical Allele Identifier: CA2673481980

Gene: AMACR C1QTNF3-AMACR

Linked Data

• gnomAD v4: 5-34008092-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34008092T>G , CM000667.2:g.34008092T>G	GRCh38
NC_000005.9:g.34008197T>G , CM000667.1:g.34008197T>G	GRCh37
NC_000005.8:g.34043954T>G	NCBI36
NG_016211.1:g.5024A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.10:c.-73A>C (AMACR)	ENSP00000334424.6:n.-73A>C
ENST00000382079.3:c.690-2193A>C (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-2193A>C
ENST00000502637.5:c.-73A>C (AMACR)	ENSP00000424351.1:n.-73A>C
NM_001167595.1:c.-73A>C (AMACR)	NP_001161067.1:n.-73A>C
NM_014324.5:c.-73A>C (AMACR)	NP_055139.4:n.-73A>C
NM_203382.2:c.-73A>C (AMACR)	NP_976316.1:n.-73A>C
NR_037951.1:n.765-2193A>C (C1QTNF3-AMACR)