Canonical Allele Identifier: CA116866965
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

ClinVar Variation Id: 1949782
dbSNP Id: rs201659164
gnomAD v2: 5-33998763-T-C
gnomAD v4: 5-33998658-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33998658T>C , CM000667.2:g.33998658T>C GRCh38
NC_000005.9:g.33998763T>C , CM000667.1:g.33998763T>C GRCh37
NC_000005.8:g.34034520T>C NCBI36
NG_016211.1:g.14458A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.11:c.722A>G (AMACR) MANE Select ENSP00000334424.6:p.Tyr241Cys
ENST00000335606.10:c.722A>G (AMACR) ENSP00000334424.6:p.Tyr241Cys
ENST00000382068.3:c.561A>G (AMACR) ENSP00000477108.1:p.Leu187=
ENST00000382072.6:c.561A>G (AMACR) ENSP00000371504.2:p.Leu187=
ENST00000382079.3:c.*148A>G (C1QTNF3-AMACR) ENSP00000371511.3:n.*148A>G
ENST00000382085.7:c.722A>G (AMACR) ENSP00000371517.3:p.Tyr241Cys
ENST00000426255.6:c.722A>G (AMACR) ENSP00000476965.1:p.Tyr241Cys
ENST00000502637.5:c.677A>G (AMACR) ENSP00000424351.1:p.Tyr226Cys
ENST00000506639.5:c.561A>G (AMACR) ENSP00000427227.1:p.Leu187=
ENST00000512079.5:c.722A>G (AMACR) ENSP00000477411.1:p.Tyr241Cys
ENST00000514195.1:n.573A>G (AMACR)
NM_001167595.1:c.722A>G (AMACR) NP_001161067.1:p.Tyr241Cys
NM_014324.5:c.722A>G (AMACR) NP_055139.4:p.Tyr241Cys
NM_203382.2:c.561A>G (AMACR) NP_976316.1:p.Leu187=
NR_037951.1:n.1078A>G (C1QTNF3-AMACR)
NM_014324.6:c.722A>G (AMACR) MANE Select NP_055139.4:p.Tyr241Cys
NM_001167595.2:c.722A>G (AMACR) NP_001161067.1:p.Tyr241Cys
NM_203382.3:c.561A>G (AMACR) NP_976316.1:p.Leu187=