Canonical Allele Identifier: CA1431197

Gene: IBA57

Linked Data

• ClinVar Variation Id: 379988
• ClinVar RCV Id: RCV000439267 ; RCV000676869 ; RCV001702642 ; RCV001515780 ; RCV001702443
• dbSNP Id: rs2298014
• ExAC: 1:228362682 G / A
• gnomAD v2: 1-228362682-G-A
• gnomAD v3: 1-228174981-G-A
• gnomAD v4: 1-228174981-G-A
• MyVariant Identifiers: chr1:g.228362682G>A (hg19) ; chr1:g.228174981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228174981G>A , CM000663.2:g.228174981G>A	GRCh38
NC_000001.10:g.228362682G>A , CM000663.1:g.228362682G>A	GRCh37
NC_000001.9:g.226429305G>A	NCBI36
NG_042231.1:g.14174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366711.4:c.631G>A MANE Select	ENSP00000355672.3:p.Gly211Ser
ENST00000366711.3:c.631G>A	ENSP00000355672.3:p.Gly211Ser
ENST00000484749.5:n.2631G>A
ENST00000546123.2:n.351G>A
NM_001010867.2:c.631G>A	NP_001010867.1:p.Gly211Ser
NM_001010867.3:c.631G>A	NP_001010867.1:p.Gly211Ser
NM_001310327.1:c.52G>A	NP_001297256.1:p.Gly18Ser
XM_006711753.2:c.631G>A	XP_006711816.1:p.Gly211Ser
NM_001010867.4:c.631G>A MANE Select	NP_001010867.1:p.Gly211Ser
NM_001310327.2:c.52G>A	NP_001297256.1:p.Gly18Ser