Canonical Allele Identifier: CA3226324
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs376950596
ExAC: 5:34008160 A / G
gnomAD v2: 5-34008160-A-G
gnomAD v3: 5-34008055-A-G
gnomAD v4: 5-34008055-A-G
MyVariant Identifiers: chr5:g.34008160A>G (hg19) chr5:g.34008055A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008055A>G , CM000667.2:g.34008055A>G GRCh38
NC_000005.9:g.34008160A>G , CM000667.1:g.34008160A>G GRCh37
NC_000005.8:g.34043917A>G NCBI36
NG_016211.1:g.5061T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.10:c.-36T>C (AMACR) ENSP00000334424.6:n.-36T>C
ENST00000382079.3:c.690-2156T>C (C1QTNF3-AMACR) ENSP00000371511.3:n.690-2156T>C
ENST00000426255.6:c.-36T>C (AMACR) ENSP00000476965.1:n.-36T>C
ENST00000502637.5:c.-36T>C (AMACR) ENSP00000424351.1:n.-36T>C
NM_001167595.1:c.-36T>C (AMACR) NP_001161067.1:n.-36T>C
NM_014324.5:c.-36T>C (AMACR) NP_055139.4:n.-36T>C
NM_203382.2:c.-36T>C (AMACR) NP_976316.1:n.-36T>C
NR_037951.1:n.765-2156T>C (C1QTNF3-AMACR)
Search 100 bp 5'
Search 100 bp 3'