Canonical Allele Identifier: CA1431301

Gene: IBA57

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228175421A>T , CM000663.2:g.228175421A>T	GRCh38
NC_000001.10:g.228363122A>T , CM000663.1:g.228363122A>T	GRCh37
NC_000001.9:g.226429745A>T	NCBI36
NG_042231.1:g.14614A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001010867.4:c.979A>T MANE Select	NP_001010867.1:p.Ile327Phe
ENST00000366711.4:c.979A>T MANE Select	ENSP00000355672.3:p.Ile327Phe
NM_001010867.2:c.979A>T	NP_001010867.1:p.Ile327Phe
NM_001010867.3:c.979A>T	NP_001010867.1:p.Ile327Phe
NM_001310327.1:c.400A>T	NP_001297256.1:p.Ile134Phe
NM_001310327.2:c.400A>T	NP_001297256.1:p.Ile134Phe
ENST00000366711.3:c.979A>T	ENSP00000355672.3:p.Ile327Phe
ENST00000484749.5:n.2979A>T
ENST00000546123.2:n.699A>T
XM_006711753.2:c.679+392A>T	XP_006711816.1:n.679+392A>T