Canonical Allele Identifier: CA613011980

Gene: HEATR5A

Linked Data

• dbSNP Id: rs1176150001
• gnomAD v2: 14-31863096-C-T
• gnomAD v3: 14-31393890-C-T
• gnomAD v4: 14-31393890-C-T
• MyVariant Identifiers: chr14:g.31863096C>T (hg19) ; chr14:g.31393890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31393890C>T , CM000676.2:g.31393890C>T	GRCh38
NC_000014.8:g.31863096C>T , CM000676.1:g.31863096C>T	GRCh37
NC_000014.7:g.30932847C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000543095.7:c.772+162G>A MANE Select	ENSP00000437968.2:n.772+162G>A
ENST00000543095.6:c.772+162G>A	ENSP00000437968.2:n.772+162G>A
ENST00000549185.5:c.*868+162G>A	ENSP00000446654.1:n.*868+162G>A
NM_015473.3:c.772+162G>A	NP_056288.2:n.772+162G>A
NM_015473.4:c.772+162G>A MANE Select	NP_056288.2:n.772+162G>A