Canonical Allele Identifier: CA1431107

Gene: IBA57

Linked Data

• ClinVar Variation Id: 541311
• ClinVar RCV Id: RCV000651559 ; RCV003225108
• dbSNP Id: rs775646159
• ExAC: 1:228353852 T / G
• gnomAD v2: 1-228353852-T-G
• gnomAD v3: 1-228166151-T-G
• gnomAD v4: 1-228166151-T-G
• MyVariant Identifiers: chr1:g.228353852T>G (hg19) ; chr1:g.228166151T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228166151T>G , CM000663.2:g.228166151T>G	GRCh38
NC_000001.10:g.228353852T>G , CM000663.1:g.228353852T>G	GRCh37
NC_000001.9:g.226420475T>G	NCBI36
NG_042231.1:g.5344T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366711.4:c.335T>G MANE Select	ENSP00000355672.3:p.Leu112Trp
ENST00000366711.3:c.335T>G	ENSP00000355672.3:p.Leu112Trp
NM_001010867.2:c.335T>G	NP_001010867.1:p.Leu112Trp
NM_001010867.3:c.335T>G	NP_001010867.1:p.Leu112Trp
XM_006711753.2:c.335T>G	XP_006711816.1:p.Leu112Trp
NM_001010867.4:c.335T>G MANE Select	NP_001010867.1:p.Leu112Trp