Canonical Allele Identifier: CA2578282593
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

gnomAD v4: 5-34008101-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008101C>G , CM000667.2:g.34008101C>G GRCh38
NC_000005.9:g.34008206C>G , CM000667.1:g.34008206C>G GRCh37
NC_000005.8:g.34043963C>G NCBI36
NG_016211.1:g.5015G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.10:c.-82G>C (AMACR) ENSP00000334424.6:n.-82G>C
ENST00000382079.3:c.690-2202G>C (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2202G>C
ENST00000502637.5:c.-82G>C (AMACR) ENSP00000424351.1:n.-82G>C
NM_001167595.1:c.-82G>C (AMACR) NP_001161067.1:n.-82G>C
NM_014324.5:c.-82G>C (AMACR) NP_055139.4:n.-82G>C
NM_203382.2:c.-82G>C (AMACR) NP_976316.1:n.-82G>C
NR_037951.1:n.765-2202G>C (C1QTNF3-AMACR)
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