Canonical Allele Identifier: CA345116627

Gene: IBA57

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228175355C>T , CM000663.2:g.228175355C>T	GRCh38
NC_000001.10:g.228363056C>T , CM000663.1:g.228363056C>T	GRCh37
NC_000001.9:g.226429679C>T	NCBI36
NG_042231.1:g.14548C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001010867.4:c.913C>T MANE Select	NP_001010867.1:p.Gln305Ter
ENST00000366711.4:c.913C>T MANE Select	ENSP00000355672.3:p.Gln305Ter
NM_001010867.2:c.913C>T	NP_001010867.1:p.Gln305Ter
NM_001010867.3:c.913C>T	NP_001010867.1:p.Gln305Ter
NM_001310327.1:c.334C>T	NP_001297256.1:p.Gln112Ter
NM_001310327.2:c.334C>T	NP_001297256.1:p.Gln112Ter
ENST00000366711.3:c.913C>T	ENSP00000355672.3:p.Gln305Ter
ENST00000484749.5:n.2913C>T
ENST00000546123.2:n.633C>T
XM_006711753.2:c.679+326C>T	XP_006711816.1:n.679+326C>T