Canonical Allele Identifier: CA11965787
Gene: AMACR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.33986304C>G
GRCh37 chr5:g.33986409C>G
gnomAD v2:
5:33986409 C / G
gnomAD v3:
5:33986304 C / G
gnomAD v4:
chr5-33986304-C-G
Joint Max Group AF 0.64861352 (EAS)
Genomes Max Group AF 0.64861352 (EAS)
Exomes Max Group AF 0.2044221 (NFE)
dbSNP:
13289
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.11:c.*2789G>C MANE Select ENSP00000334424.6:n.*2789G>C
ENST00000335606.10:c.*2789G>C ENSP00000334424.6:n.*2789G>C
NM_014324.6:c.*2789G>C MANE Select NP_055139.4:n.*2789G>C
NM_203382.3:c.*3180G>C NP_976316.1:n.*3180G>C
Search 100 bp 5'
Search 100 bp 3'