Canonical Allele Identifier: CA384013785
Gene: ART4 HGNC NCBI
C12orf60 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14840937C>A , CM000674.2:g.14840937C>A GRCh38
NC_000012.11:g.14993871C>A , CM000674.1:g.14993871C>A GRCh37
NC_000012.10:g.14885138C>A NCBI36
NG_007477.2:g.7543G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228936.6:c.361G>T (ART4) MANE Select ENSP00000228936.4:p.Val121Leu
ENST00000648334.1:n.125+11258C>A (C12orf60)
ENST00000228936.4:c.361G>T (ART4) ENSP00000228936.4:p.Val121Leu
ENST00000420600.1:c.310G>T (ART4) ENSP00000405689.1:p.Val104Leu
ENST00000430129.6:c.165+145G>T (ART4) ENSP00000412735.2:n.165+145G>T
ENST00000527783.1:n.75+37186C>A (C12orf60)
ENST00000533472.1:n.86+37186C>A (C12orf60)
ENST00000544616.5:c.93+2033G>T (ART4) ENSP00000442877.1:n.93+2033G>T
NM_021071.2:c.361G>T (ART4) NP_066549.2:p.Val121Leu
NM_001354646.1:c.361G>T (ART4) NP_001341575.1:p.Val121Leu
NM_021071.3:c.361G>T (ART4) NP_066549.2:p.Val121Leu
NM_021071.4:c.361G>T (ART4) MANE Select NP_066549.2:p.Val121Leu
NM_001354646.2:c.361G>T (ART4) NP_001341575.1:p.Val121Leu