Canonical Allele Identifier: CA7360057

Gene: AMN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102930214C>A , CM000676.2:g.102930214C>A	GRCh38
NC_000014.8:g.103396551C>A , CM000676.1:g.103396551C>A	GRCh37
NC_000014.7:g.102466304C>A	NCBI36
NG_008276.2:g.12559C>A , LRG_642:g.12559C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_030943.4:c.1056C>A MANE Select	NP_112205.2:p.His352Gln
ENST00000299155.10:c.1056C>A MANE Select	ENSP00000299155.6:p.His352Gln
NM_030943.3:c.1056C>A , LRG_642t1:c.1056C>A	NP_112205.2:p.His352Gln
ENST00000299155.9:c.1056C>A	ENSP00000299155.5:p.His352Gln
ENST00000541086.5:n.1802C>A
ENST00000558590.1:n.1019C>A
ENST00000559507.1:n.108C>A
ENST00000559789.1:c.176C>A
XM_011537202.1:c.894C>A	XP_011535504.1:p.His298Gln
XM_011537202.3:c.894C>A	XP_011535504.1:p.His298Gln
XM_011537203.1:c.894C>A	XP_011535505.1:p.His298Gln
XM_011537203.3:c.894C>A	XP_011535505.1:p.His298Gln
XM_024449714.1:c.1152C>A	XP_024305482.1:p.His384Gln