Canonical Allele Identifier: CA15635811

Gene: AP3M1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74121918G>A , CM000672.2:g.74121918G>A	GRCh38
NC_000010.10:g.75881676G>A , CM000672.1:g.75881676G>A	GRCh37
NC_000010.9:g.75551682G>A	NCBI36
NG_008868.1:g.128805G>A , LRG_383:g.128805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355264.9:c.*1892C>T MANE Select	ENSP00000347408.4:n.*1892C>T
ENST00000355264.8:c.*1892C>T	ENSP00000347408.4:n.*1892C>T
NM_012095.4:c.*1892C>T	NP_036227.1:n.*1892C>T
NM_207012.2:c.*1892C>T	NP_996895.1:n.*1892C>T
XM_006717763.2:c.*1892C>T	XP_006717826.1:n.*1892C>T
XM_011539635.1:c.*1892C>T	XP_011537937.1:n.*1892C>T
XM_011539636.1:c.*1892C>T	XP_011537938.1:n.*1892C>T
XR_945672.1:n.3267C>T
NM_001320263.1:c.*1892C>T	NP_001307192.1:n.*1892C>T
NM_001320264.1:c.*1892C>T	NP_001307193.1:n.*1892C>T
NM_001320265.1:c.*1892C>T	NP_001307194.1:n.*1892C>T
NM_012095.5:c.*1892C>T	NP_036227.1:n.*1892C>T
NM_207012.3:c.*1892C>T	NP_996895.1:n.*1892C>T
NR_135191.1:n.3505C>T
XM_024447939.1:c.*1892C>T	XP_024303707.1:n.*1892C>T
XR_001747091.2:n.3613C>T
XR_001747092.2:n.3751C>T
NM_001320263.2:c.*1892C>T	NP_001307192.1:n.*1892C>T
NM_001320264.2:c.*1892C>T	NP_001307193.1:n.*1892C>T
NM_001320265.2:c.*1892C>T	NP_001307194.1:n.*1892C>T
NM_012095.6:c.*1892C>T MANE Select	NP_036227.1:n.*1892C>T
NM_207012.4:c.*1892C>T	NP_996895.1:n.*1892C>T
NR_135191.2:n.3248C>T