Canonical Allele Identifier: CA645227988

Gene: PNMA6E

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153400456A>T , CM000685.2:g.153400456A>T	GRCh38
NC_000023.10:g.152665914A>T , CM000685.1:g.152665914A>T	GRCh37
NC_000023.9:g.152319108A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445091.3:c.-72+788T>A MANE Select	ENSP00000488500.1:n.-72+788T>A
ENST00000445091.2:c.-72+788T>A	ENSP00000488500.1:n.-72+788T>A
ENST00000633844.1:c.-72+788T>A	ENSP00000488404.1:n.-72+788T>A
NM_001351293.1:c.-72+788T>A	NP_001338222.1:n.-72+788T>A
NM_001351294.1:c.-72+214T>A	NP_001338223.1:n.-72+214T>A
XM_024452426.1:c.-71-1536T>A	XP_024308194.1:n.-71-1536T>A
NM_001367770.1:c.-72+788T>A MANE Select	NP_001354699.1:n.-72+788T>A
NM_001351293.2:c.-72+788T>A	NP_001338222.1:n.-72+788T>A
NM_001351294.2:c.-72+214T>A	NP_001338223.1:n.-72+214T>A