Canonical Allele Identifier: CA359381274

Gene: AMACR C1QTNF3-AMACR

Linked Data

• dbSNP Id: rs1376898665
• gnomAD v2: 5-33998786-A-G
• gnomAD v4: 5-33998681-A-G
• MyVariant Identifiers: chr5:g.33998786A>G (hg19) ; chr5:g.33998681A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33998681A>G , CM000667.2:g.33998681A>G	GRCh38
NC_000005.9:g.33998786A>G , CM000667.1:g.33998786A>G	GRCh37
NC_000005.8:g.34034543A>G	NCBI36
NG_016211.1:g.14435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.699T>C (AMACR) MANE Select	ENSP00000334424.6:p.Val233=
ENST00000335606.10:c.699T>C (AMACR)	ENSP00000334424.6:p.Val233=
ENST00000382068.3:c.538T>C (AMACR)	ENSP00000477108.1:p.Trp180Arg
ENST00000382072.6:c.538T>C (AMACR)	ENSP00000371504.2:p.Trp180Arg
ENST00000382079.3:c.*125T>C (C1QTNF3-AMACR)	ENSP00000371511.3:n.*125T>C
ENST00000382085.7:c.699T>C (AMACR)	ENSP00000371517.3:p.Val233=
ENST00000426255.6:c.699T>C (AMACR)	ENSP00000476965.1:p.Val233=
ENST00000502637.5:c.654T>C (AMACR)	ENSP00000424351.1:p.Val218=
ENST00000506639.5:c.538T>C (AMACR)	ENSP00000427227.1:p.Trp180Arg
ENST00000512079.5:c.699T>C (AMACR)	ENSP00000477411.1:p.Val233=
ENST00000514195.1:n.550T>C (AMACR)
NM_001167595.1:c.699T>C (AMACR)	NP_001161067.1:p.Val233=
NM_014324.5:c.699T>C (AMACR)	NP_055139.4:p.Val233=
NM_203382.2:c.538T>C (AMACR)	NP_976316.1:p.Trp180Arg
NR_037951.1:n.1055T>C (C1QTNF3-AMACR)
NM_014324.6:c.699T>C (AMACR) MANE Select	NP_055139.4:p.Val233=
NM_001167595.2:c.699T>C (AMACR)	NP_001161067.1:p.Val233=
NM_203382.3:c.538T>C (AMACR)	NP_976316.1:p.Trp180Arg