Canonical Allele Identifier: CA3226325
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

ClinVar Variation Id: 353257
ClinVar RCV Id: RCV000375336
dbSNP Id: rs553007226
ExAC: 5:34008164 C / T
gnomAD v2: 5-34008164-C-T
gnomAD v3: 5-34008059-C-T
gnomAD v4: 5-34008059-C-T
MyVariant Identifiers: chr5:g.34008164C>T (hg19) chr5:g.34008059C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008059C>T , CM000667.2:g.34008059C>T GRCh38
NC_000005.9:g.34008164C>T , CM000667.1:g.34008164C>T GRCh37
NC_000005.8:g.34043921C>T NCBI36
NG_016211.1:g.5057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.10:c.-40G>A (AMACR) ENSP00000334424.6:n.-40G>A
ENST00000382079.3:c.690-2160G>A (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2160G>A
ENST00000426255.6:c.-40G>A (AMACR) ENSP00000476965.1:n.-40G>A
ENST00000502637.5:c.-40G>A (AMACR) ENSP00000424351.1:n.-40G>A
NM_001167595.1:c.-40G>A (AMACR) NP_001161067.1:n.-40G>A
NM_014324.5:c.-40G>A (AMACR) NP_055139.4:n.-40G>A
NM_203382.2:c.-40G>A (AMACR) NP_976316.1:n.-40G>A
NR_037951.1:n.765-2160G>A (C1QTNF3-AMACR)
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