Canonical Allele Identifier: CA558969548
Gene: AMACR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33986304C>T , CM000667.2:g.33986304C>T GRCh38
NC_000005.9:g.33986409C>T , CM000667.1:g.33986409C>T GRCh37
NC_000005.8:g.34022166C>T NCBI36
NG_011691.2:g.3372G>A
NG_016211.1:g.26812G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.11:c.*2789G>A MANE Select ENSP00000334424.6:n.*2789G>A
ENST00000335606.10:c.*2789G>A ENSP00000334424.6:n.*2789G>A
NM_014324.6:c.*2789G>A MANE Select NP_055139.4:n.*2789G>A
NM_203382.3:c.*3180G>A NP_976316.1:n.*3180G>A