Canonical Allele Identifier: CA345106709

Gene: IBA57

Linked Data

• ClinVar Variation Id: 522951
• ClinVar RCV Id: RCV000626148 ; RCV002529780
• dbSNP Id: rs1298056442
• gnomAD v3: 1-228166129-C-T
• gnomAD v4: 1-228166129-C-T
• MyVariant Identifiers: chr1:g.228353830C>T (hg19) ; chr1:g.228166129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228166129C>T , CM000663.2:g.228166129C>T	GRCh38
NC_000001.10:g.228353830C>T , CM000663.1:g.228353830C>T	GRCh37
NC_000001.9:g.226420453C>T	NCBI36
NG_042231.1:g.5322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366711.4:c.313C>T MANE Select	ENSP00000355672.3:p.Arg105Trp
ENST00000366711.3:c.313C>T	ENSP00000355672.3:p.Arg105Trp
NM_001010867.2:c.313C>T	NP_001010867.1:p.Arg105Trp
NM_001010867.3:c.313C>T	NP_001010867.1:p.Arg105Trp
XM_006711753.2:c.313C>T	XP_006711816.1:p.Arg105Trp
NM_001010867.4:c.313C>T MANE Select	NP_001010867.1:p.Arg105Trp