Canonical Allele Identifier: CA558971220
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1462090244
gnomAD v2: 5-34008158-G-A
gnomAD v3: 5-34008053-G-A
gnomAD v4: 5-34008053-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008053G>A , CM000667.2:g.34008053G>A GRCh38
NC_000005.9:g.34008158G>A , CM000667.1:g.34008158G>A GRCh37
NC_000005.8:g.34043915G>A NCBI36
NG_016211.1:g.5063C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.10:c.-34C>T (AMACR) ENSP00000334424.6:n.-34C>T
ENST00000382079.3:c.690-2154C>T (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2154C>T
ENST00000426255.6:c.-34C>T (AMACR) ENSP00000476965.1:n.-34C>T
ENST00000502637.5:c.-34C>T (AMACR) ENSP00000424351.1:n.-34C>T
NM_001167595.1:c.-34C>T (AMACR) NP_001161067.1:n.-34C>T
NM_014324.5:c.-34C>T (AMACR) NP_055139.4:n.-34C>T
NM_203382.2:c.-34C>T (AMACR) NP_976316.1:n.-34C>T
NR_037951.1:n.765-2154C>T (C1QTNF3-AMACR)