Canonical Allele Identifier: CA3226328
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs764793786
ExAC: 5:34008169 C / G
gnomAD v2: 5-34008169-C-G
gnomAD v4: 5-34008064-C-G
MyVariant Identifiers: chr5:g.34008169C>G (hg19) chr5:g.34008064C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008064C>G , CM000667.2:g.34008064C>G GRCh38
NC_000005.9:g.34008169C>G , CM000667.1:g.34008169C>G GRCh37
NC_000005.8:g.34043926C>G NCBI36
NG_016211.1:g.5052G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.10:c.-45G>C (AMACR) ENSP00000334424.6:n.-45G>C
ENST00000382079.3:c.690-2165G>C (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2165G>C
ENST00000426255.6:c.-45G>C (AMACR) ENSP00000476965.1:n.-45G>C
ENST00000502637.5:c.-45G>C (AMACR) ENSP00000424351.1:n.-45G>C
NM_001167595.1:c.-45G>C (AMACR) NP_001161067.1:n.-45G>C
NM_014324.5:c.-45G>C (AMACR) NP_055139.4:n.-45G>C
NM_203382.2:c.-45G>C (AMACR) NP_976316.1:n.-45G>C
NR_037951.1:n.765-2165G>C (C1QTNF3-AMACR)
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