Canonical Allele Identifier: CA7147408

Gene: HEATR5A

Linked Data

• dbSNP Id: rs17097870
• ExAC: 14:31863225 G / C
• gnomAD v2: 14-31863225-G-C
• gnomAD v3: 14-31394019-G-C
• gnomAD v4: 14-31394019-G-C
• MyVariant Identifiers: chr14:g.31863225G>C (hg19) ; chr14:g.31394019G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31394019G>C , CM000676.2:g.31394019G>C	GRCh38
NC_000014.8:g.31863225G>C , CM000676.1:g.31863225G>C	GRCh37
NC_000014.7:g.30932976G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543095.7:c.772+33C>G MANE Select	ENSP00000437968.2:n.772+33C>G
ENST00000543095.6:c.772+33C>G	ENSP00000437968.2:n.772+33C>G
ENST00000549185.5:c.*868+33C>G	ENSP00000446654.1:n.*868+33C>G
NM_015473.3:c.772+33C>G	NP_056288.2:n.772+33C>G
NM_015473.4:c.772+33C>G MANE Select	NP_056288.2:n.772+33C>G