Canonical Allele Identifier: CA144423

Gene: AMN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102929518C>T , CM000676.2:g.102929518C>T	GRCh38
NC_000014.8:g.103395855C>T , CM000676.1:g.103395855C>T	GRCh37
NC_000014.7:g.102465608C>T	NCBI36
NG_008276.2:g.11863C>T , LRG_642:g.11863C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_030943.4:c.742C>T MANE Select	NP_112205.2:p.Gln248Ter
ENST00000299155.10:c.742C>T MANE Select	ENSP00000299155.6:p.Gln248Ter
NM_030943.3:c.742C>T , LRG_642t1:c.742C>T	NP_112205.2:p.Gln248Ter
ENST00000299155.9:c.742C>T	ENSP00000299155.5:p.Gln248Ter
ENST00000541086.5:n.1488C>T
ENST00000558590.1:n.705C>T
ENST00000559789.1:c.126+563C>T
XM_011537202.1:c.580C>T	XP_011535504.1:p.Gln194Ter
XM_011537202.3:c.580C>T	XP_011535504.1:p.Gln194Ter
XM_011537203.1:c.580C>T	XP_011535505.1:p.Gln194Ter
XM_011537203.3:c.580C>T	XP_011535505.1:p.Gln194Ter
XM_024449714.1:c.838C>T	XP_024305482.1:p.Gln280Ter