Canonical Allele Identifier: CA1431209

Gene: IBA57

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228175032A>G , CM000663.2:g.228175032A>G	GRCh38
NC_000001.10:g.228362733A>G , CM000663.1:g.228362733A>G	GRCh37
NC_000001.9:g.226429356A>G	NCBI36
NG_042231.1:g.14225A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001010867.4:c.679+3A>G MANE Select	NP_001010867.1:n.679+3A>G
ENST00000366711.4:c.679+3A>G MANE Select	ENSP00000355672.3:n.679+3A>G
NM_001010867.2:c.679+3A>G	NP_001010867.1:n.679+3A>G
NM_001010867.3:c.679+3A>G	NP_001010867.1:n.679+3A>G
NM_001310327.1:c.100+3A>G	NP_001297256.1:n.100+3A>G
NM_001310327.2:c.100+3A>G	NP_001297256.1:n.100+3A>G
ENST00000366711.3:c.679+3A>G	ENSP00000355672.3:n.679+3A>G
ENST00000484749.5:n.2679+3A>G
ENST00000546123.2:n.399+3A>G
XM_006711753.2:c.679+3A>G	XP_006711816.1:n.679+3A>G