Canonical Allele Identifier: CA2673482012
Gene: C1QTNF3-AMACR HGNC NCBI
AMACR HGNC NCBI

Linked Data

gnomAD v4: 5-34008112-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008112C>T , CM000667.2:g.34008112C>T GRCh38
NC_000005.9:g.34008217C>T , CM000667.1:g.34008217C>T GRCh37
NC_000005.8:g.34043974C>T NCBI36
NG_016211.1:g.5004G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2213G>A (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2213G>A
NM_001167595.1:c.-93G>A (AMACR) NP_001161067.1:n.-93G>A
NM_014324.5:c.-93G>A (AMACR) NP_055139.4:n.-93G>A
NM_203382.2:c.-93G>A (AMACR) NP_976316.1:n.-93G>A
NR_037951.1:n.765-2213G>A (C1QTNF3-AMACR)