Canonical Allele Identifier: CA3225993
Community Standard Title: NM_014324.6(AMACR):c.942G>A (p.Ser314=)
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33989300C>T , CM000667.2:g.33989300C>T GRCh38
NC_000005.9:g.33989405C>T , CM000667.1:g.33989405C>T GRCh37
NC_000005.8:g.34025162C>T NCBI36
NG_011691.2:g.376G>A
NG_016211.1:g.23816G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014324.6:c.942G>A (AMACR) MANE Select NP_055139.4:p.Ser314=
ENST00000335606.11:c.942G>A (AMACR) MANE Select ENSP00000334424.6:p.Ser314=
NM_001167595.1:c.942G>A (AMACR) NP_001161067.1:p.Ser314=
NM_001167595.2:c.942G>A (AMACR) NP_001161067.1:p.Ser314=
NM_014324.5:c.942G>A (AMACR) NP_055139.4:p.Ser314=
NM_203382.2:c.*184G>A (AMACR) NP_976316.1:n.*184G>A
NM_203382.3:c.*184G>A (AMACR) NP_976316.1:n.*184G>A
NR_037951.1:n.1298G>A (C1QTNF3-AMACR)
ENST00000335606.10:c.942G>A (AMACR) ENSP00000334424.6:p.Ser314=
ENST00000382072.6:c.*184G>A (AMACR) ENSP00000371504.2:n.*184G>A
ENST00000382079.3:c.*368G>A (C1QTNF3-AMACR) ENSP00000371511.3:n.*368G>A
ENST00000382085.7:c.942G>A (AMACR) ENSP00000371517.3:p.Ser314=
ENST00000502637.5:c.897G>A (AMACR) ENSP00000424351.1:p.Ser299=
ENST00000506639.5:c.*264G>A (AMACR) ENSP00000427227.1:n.*264G>A
ENST00000514195.1:n.836G>A (AMACR)