Canonical Allele Identifier: CA214174815

Gene: EIF3A

Linked Data

• dbSNP Id: rs931548393
• gnomAD v2: 10-120809992-C-T
• gnomAD v4: 10-119050480-C-T
• MyVariant Identifiers: chr10:g.120809992C>T (hg19) ; chr10:g.119050480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119050480C>T , CM000672.2:g.119050480C>T	GRCh38
NC_000010.10:g.120809992C>T , CM000672.1:g.120809992C>T	GRCh37
NC_000010.9:g.120799982C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369144.8:c.2473+41G>A MANE Select	ENSP00000358140.3:n.2473+41G>A
ENST00000369144.7:c.2473+41G>A	ENSP00000358140.3:n.2473+41G>A
ENST00000541549.2:c.2473+41G>A	ENSP00000438178.2:n.2473+41G>A
NM_003750.2:c.2473+41G>A	NP_003741.1:n.2473+41G>A
NM_003750.3:c.2473+41G>A	NP_003741.1:n.2473+41G>A
NM_003750.4:c.2473+41G>A MANE Select	NP_003741.1:n.2473+41G>A