Canonical Allele Identifier: CA116873188
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1008338965
gnomAD v3: 5-34008098-T-A
gnomAD v4: 5-34008098-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008098T>A , CM000667.2:g.34008098T>A GRCh38
NC_000005.9:g.34008203T>A , CM000667.1:g.34008203T>A GRCh37
NC_000005.8:g.34043960T>A NCBI36
NG_016211.1:g.5018A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.10:c.-79A>T (AMACR) ENSP00000334424.6:n.-79A>T
ENST00000382079.3:c.690-2199A>T (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2199A>T
ENST00000502637.5:c.-79A>T (AMACR) ENSP00000424351.1:n.-79A>T
NM_001167595.1:c.-79A>T (AMACR) NP_001161067.1:n.-79A>T
NM_014324.5:c.-79A>T (AMACR) NP_055139.4:n.-79A>T
NM_203382.2:c.-79A>T (AMACR) NP_976316.1:n.-79A>T
NR_037951.1:n.765-2199A>T (C1QTNF3-AMACR)