Canonical Allele Identifier: CA2673481952
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

gnomAD v4: 5-34008067-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008067C>G , CM000667.2:g.34008067C>G GRCh38
NC_000005.9:g.34008172C>G , CM000667.1:g.34008172C>G GRCh37
NC_000005.8:g.34043929C>G NCBI36
NG_016211.1:g.5049G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.10:c.-48G>C (AMACR) ENSP00000334424.6:n.-48G>C
ENST00000382079.3:c.690-2168G>C (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2168G>C
ENST00000426255.6:c.-48G>C (AMACR) ENSP00000476965.1:n.-48G>C
ENST00000502637.5:c.-48G>C (AMACR) ENSP00000424351.1:n.-48G>C
NM_001167595.1:c.-48G>C (AMACR) NP_001161067.1:n.-48G>C
NM_014324.5:c.-48G>C (AMACR) NP_055139.4:n.-48G>C
NM_203382.2:c.-48G>C (AMACR) NP_976316.1:n.-48G>C
NR_037951.1:n.765-2168G>C (C1QTNF3-AMACR)