Canonical Allele Identifier: CA211910

Gene: BHLHA9

Linked Data

• ClinVar Variation Id: 162065
• ClinVar RCV Id: RCV000149486
• dbSNP Id: rs672601337
• gnomAD v4: 17-1270774-A-G
• MyVariant Identifiers: chr17:g.1174068A>G (hg19) ; chr17:g.1270774A>G (hg38)
• PubMed: PMID:15039974 ; PMID:25466284

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1270774A>G , CM000679.2:g.1270774A>G	GRCh38
NC_000017.10:g.1174068A>G , CM000679.1:g.1174068A>G	GRCh37
NC_000017.9:g.1120818A>G	NCBI36
NG_042055.1:g.5211A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391429.2:c.211A>G MANE Select	ENSP00000375248.1:p.Asn71Asp
ENST00000391429.1:c.211A>G	ENSP00000375248.1:p.Asn71Asp
NM_001164405.1:c.211A>G	NP_001157877.1:p.Asn71Asp
NM_001164405.2:c.211A>G MANE Select	NP_001157877.1:p.Asn71Asp