Canonical Allele Identifier: CA359398915

Gene: AMACR C1QTNF3-AMACR

Linked Data

• MyVariant Identifiers: chr5:g.33989380C>G (hg19) ; chr5:g.33989275C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33989275C>G , CM000667.2:g.33989275C>G	GRCh38
NC_000005.9:g.33989380C>G , CM000667.1:g.33989380C>G	GRCh37
NC_000005.8:g.34025137C>G	NCBI36
NG_011691.2:g.401G>C
NG_016211.1:g.23841G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.967G>C (AMACR) MANE Select	ENSP00000334424.6:p.Val323Leu
ENST00000335606.10:c.967G>C (AMACR)	ENSP00000334424.6:p.Val323Leu
ENST00000382072.6:c.*209G>C (AMACR)	ENSP00000371504.2:n.*209G>C
ENST00000382079.3:c.*393G>C (C1QTNF3-AMACR)	ENSP00000371511.3:n.*393G>C
ENST00000382085.7:c.967G>C (AMACR)	ENSP00000371517.3:p.Val323Leu
ENST00000502637.5:c.922G>C (AMACR)	ENSP00000424351.1:p.Val308Leu
ENST00000506639.5:c.*289G>C (AMACR)	ENSP00000427227.1:n.*289G>C
ENST00000514195.1:n.861G>C (AMACR)
NM_001167595.1:c.967G>C (AMACR)	NP_001161067.1:p.Val323Leu
NM_014324.5:c.967G>C (AMACR)	NP_055139.4:p.Val323Leu
NM_203382.2:c.*209G>C (AMACR)	NP_976316.1:n.*209G>C
NR_037951.1:n.1323G>C (C1QTNF3-AMACR)
NM_014324.6:c.967G>C (AMACR) MANE Select	NP_055139.4:p.Val323Leu
NM_001167595.2:c.967G>C (AMACR)	NP_001161067.1:p.Val323Leu
NM_203382.3:c.*209G>C (AMACR)	NP_976316.1:n.*209G>C