Canonical Allele Identifier: CA16602869

Gene: H3-3A

Linked Data

• ClinVar Variation Id: 376434
• ClinVar RCV Id: RCV000418626 ; RCV000426050 ; RCV000436272 ; RCV000444419
• dbSNP Id: rs1057519902
• MyVariant Identifiers: chr1:g.226252152G>C (hg19) ; chr1:g.226064451G>C (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226064451G>C , CM000663.2:g.226064451G>C	GRCh38
NC_000001.10:g.226252152G>C , CM000663.1:g.226252152G>C	GRCh37
NC_000001.9:g.224318775G>C	NCBI36
NG_065173.1:g.6745G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366815.10:c.100G>C MANE Select	ENSP00000355780.3:p.Gly34Arg
ENST00000653960.1:n.209G>C
ENST00000655399.1:c.100G>C	ENSP00000499800.1:p.Gly34Arg
ENST00000656829.1:n.30-1284G>C
ENST00000661429.1:c.100G>C	ENSP00000499385.1:p.Gly34Arg
ENST00000666609.1:c.100G>C	ENSP00000499275.1:p.Gly34Arg
ENST00000667897.1:c.100G>C	ENSP00000499446.1:p.Gly34Arg
ENST00000366813.1:c.100G>C	ENSP00000355778.1:p.Gly34Arg
ENST00000366814.3:c.100G>C	ENSP00000355779.3:p.Gly34Arg
ENST00000366815.7:c.100G>C	ENSP00000355780.3:p.Gly34Arg
ENST00000366816.5:c.100G>C	ENSP00000355781.1:p.Gly34Arg
NM_002107.4:c.100G>C	NP_002098.1:p.Gly34Arg
NM_002107.5:c.100G>C	NP_002098.1:p.Gly34Arg
NM_002107.7:c.100G>C MANE Select	NP_002098.1:p.Gly34Arg
NM_001379043.1:c.100G>C	NP_001365972.1:p.Gly34Arg
NM_001379045.1:c.100G>C	NP_001365974.1:p.Gly34Arg
NM_001379046.1:c.100G>C	NP_001365975.1:p.Gly34Arg
NM_001379047.1:c.100G>C	NP_001365976.1:p.Gly34Arg