Canonical Allele Identifier: CA3226165
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.33998826A>G
GRCh37 chr5:g.33998931A>G
Revel Score:
ENST00000335606 (MANE Select) 0.618
ENST00000382085 0.618
gnomAD v2:
5:33998931 A / G
gnomAD v3:
5:33998826 A / G
gnomAD v4:
chr5-33998826-A-G
Joint Max Group AF 0.00125795 (SAS)
Genomes Max Group AF 0.00095456 (NFE)
Exomes Max Group AF 0.0012852 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33998826A>G , CM000667.2:g.33998826A>G GRCh38
NC_000005.9:g.33998931A>G , CM000667.1:g.33998931A>G GRCh37
NC_000005.8:g.34034688A>G NCBI36
NG_016211.1:g.14290T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.11:c.554T>C (AMACR) MANE Select ENSP00000334424.6:p.Val185Ala
ENST00000335606.10:c.554T>C (AMACR) ENSP00000334424.6:p.Val185Ala
ENST00000382068.3:c.393T>C (AMACR) ENSP00000477108.1:p.Gly131=
ENST00000382072.6:c.393T>C (AMACR) ENSP00000371504.2:p.Gly131=
ENST00000382079.3:c.835T>C (C1QTNF3-AMACR) ENSP00000371511.3:p.Trp279Arg
ENST00000382085.7:c.554T>C (AMACR) ENSP00000371517.3:p.Val185Ala
ENST00000426255.6:c.554T>C (AMACR) ENSP00000476965.1:p.Val185Ala
ENST00000502637.5:c.553-44T>C (AMACR) ENSP00000424351.1:n.553-44T>C
ENST00000506639.5:c.393T>C (AMACR) ENSP00000427227.1:p.Gly131=
ENST00000512079.5:c.554T>C (AMACR) ENSP00000477411.1:p.Val185Ala
ENST00000514195.1:n.405T>C (AMACR)
NM_001167595.1:c.554T>C (AMACR) NP_001161067.1:p.Val185Ala
NM_014324.5:c.554T>C (AMACR) NP_055139.4:p.Val185Ala
NM_203382.2:c.393T>C (AMACR) NP_976316.1:p.Gly131=
NR_037951.1:n.910T>C (C1QTNF3-AMACR)
NM_014324.6:c.554T>C (AMACR) MANE Select NP_055139.4:p.Val185Ala
NM_001167595.2:c.554T>C (AMACR) NP_001161067.1:p.Val185Ala
NM_203382.3:c.393T>C (AMACR) NP_976316.1:p.Gly131=
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