Canonical Allele Identifier: CA117064

Gene: AMN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102923789C>T , CM000676.2:g.102923789C>T	GRCh38
NC_000014.8:g.103390126C>T , CM000676.1:g.103390126C>T	GRCh37
NC_000014.7:g.102459879C>T	NCBI36
NG_008276.2:g.6134C>T , LRG_642:g.6134C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.122C>T MANE Select	ENSP00000299155.6:p.Thr41Ile
ENST00000299155.9:c.122C>T	ENSP00000299155.5:p.Thr41Ile
ENST00000541086.5:n.868C>T
NM_030943.3:c.122C>T , LRG_642t1:c.122C>T	NP_112205.2:p.Thr41Ile
XM_011537202.1:c.-41C>T	XP_011535504.1:n.-41C>T
XM_011537203.1:c.-41C>T	XP_011535505.1:n.-41C>T
XM_011537202.3:c.-41C>T	XP_011535504.1:n.-41C>T
XM_011537203.3:c.-41C>T	XP_011535505.1:n.-41C>T
XM_024449714.1:c.218C>T	XP_024305482.1:p.Thr73Ile
NM_030943.4:c.122C>T MANE Select	NP_112205.2:p.Thr41Ile