Canonical Allele Identifier: CA116873272
Gene: C1QTNF3-AMACR HGNC NCBI
AMACR HGNC NCBI

Linked Data

dbSNP Id: rs6871430
gnomAD v2: 5-34008214-A-G
gnomAD v3: 5-34008109-A-G
gnomAD v4: 5-34008109-A-G
MyVariant Identifiers: chr5:g.34008214A>G (hg19) chr5:g.34008214_34008234delinsGCGCCCCCAGCCGCGGCGCCG (hg19) chr5:g.34008109A>G (hg38) chr5:g.34008109_34008129delinsGCGCCCCCAGCCGCGGCGCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008109A>G , CM000667.2:g.34008109A>G GRCh38
NC_000005.9:g.34008214A>G , CM000667.1:g.34008214A>G GRCh37
NC_000005.8:g.34043971A>G NCBI36
NG_016211.1:g.5007T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2210T>C (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2210T>C
NM_001167595.1:c.-90T>C (AMACR) NP_001161067.1:n.-90T>C
NM_014324.5:c.-90T>C (AMACR) NP_055139.4:n.-90T>C
NM_203382.2:c.-90T>C (AMACR) NP_976316.1:n.-90T>C
NR_037951.1:n.765-2210T>C (C1QTNF3-AMACR)
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