Canonical Allele Identifier: CA1431229

Gene: IBA57

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228175117T>A , CM000663.2:g.228175117T>A	GRCh38
NC_000001.10:g.228362818T>A , CM000663.1:g.228362818T>A	GRCh37
NC_000001.9:g.226429441T>A	NCBI36
NG_042231.1:g.14310T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001010867.4:c.680-5T>A MANE Select	NP_001010867.1:n.680-5T>A
ENST00000366711.4:c.680-5T>A MANE Select	ENSP00000355672.3:n.680-5T>A
NM_001010867.2:c.680-5T>A	NP_001010867.1:n.680-5T>A
NM_001010867.3:c.680-5T>A	NP_001010867.1:n.680-5T>A
NM_001310327.1:c.101-5T>A	NP_001297256.1:n.101-5T>A
NM_001310327.2:c.101-5T>A	NP_001297256.1:n.101-5T>A
ENST00000366711.3:c.680-5T>A	ENSP00000355672.3:n.680-5T>A
ENST00000484749.5:n.2680-5T>A
ENST00000546123.2:n.400-5T>A
XM_006711753.2:c.679+88T>A	XP_006711816.1:n.679+88T>A