Canonical Allele Identifier: CA359381417

Gene: AMACR C1QTNF3-AMACR

Linked Data

• dbSNP Id: rs1753717301
• gnomAD v4: 5-33998711-G-C
• MyVariant Identifiers: chr5:g.33998816G>C (hg19) ; chr5:g.33998711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33998711G>C , CM000667.2:g.33998711G>C	GRCh38
NC_000005.9:g.33998816G>C , CM000667.1:g.33998816G>C	GRCh37
NC_000005.8:g.34034573G>C	NCBI36
NG_016211.1:g.14405C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.669C>G (AMACR) MANE Select	ENSP00000334424.6:p.Tyr223Ter
ENST00000335606.10:c.669C>G (AMACR)	ENSP00000334424.6:p.Tyr223Ter
ENST00000382068.3:c.508C>G (AMACR)	ENSP00000477108.1:p.Gln170Glu
ENST00000382072.6:c.508C>G (AMACR)	ENSP00000371504.2:p.Gln170Glu
ENST00000382079.3:c.*95C>G (C1QTNF3-AMACR)	ENSP00000371511.3:n.*95C>G
ENST00000382085.7:c.669C>G (AMACR)	ENSP00000371517.3:p.Tyr223Ter
ENST00000426255.6:c.669C>G (AMACR)	ENSP00000476965.1:p.Tyr223Ter
ENST00000502637.5:c.624C>G (AMACR)	ENSP00000424351.1:p.Tyr208Ter
ENST00000506639.5:c.508C>G (AMACR)	ENSP00000427227.1:p.Gln170Glu
ENST00000512079.5:c.669C>G (AMACR)	ENSP00000477411.1:p.Tyr223Ter
ENST00000514195.1:n.520C>G (AMACR)
NM_001167595.1:c.669C>G (AMACR)	NP_001161067.1:p.Tyr223Ter
NM_014324.5:c.669C>G (AMACR)	NP_055139.4:p.Tyr223Ter
NM_203382.2:c.508C>G (AMACR)	NP_976316.1:p.Gln170Glu
NR_037951.1:n.1025C>G (C1QTNF3-AMACR)
NM_014324.6:c.669C>G (AMACR) MANE Select	NP_055139.4:p.Tyr223Ter
NM_001167595.2:c.669C>G (AMACR)	NP_001161067.1:p.Tyr223Ter
NM_203382.3:c.508C>G (AMACR)	NP_976316.1:p.Gln170Glu