Canonical Allele Identifier: CA2575630673

Gene: AMN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922742A>C , CM000676.2:g.102922742A>C	GRCh38
NC_000014.8:g.103389079A>C , CM000676.1:g.103389079A>C	GRCh37
NC_000014.7:g.102458832A>C	NCBI36
NG_008276.2:g.5087A>C , LRG_642:g.5087A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.43+11A>C MANE Select	ENSP00000299155.6:n.43+11A>C
ENST00000299155.9:c.43+11A>C	ENSP00000299155.5:n.43+11A>C
NM_030943.3:c.43+11A>C , LRG_642t1:c.43+11A>C	NP_112205.2:n.43+11A>C
XM_011537202.1:c.-128A>C	XP_011535504.1:n.-128A>C
XM_011537202.3:c.-128A>C	XP_011535504.1:n.-128A>C
XM_024449714.1:c.139+11A>C	XP_024305482.1:n.139+11A>C
NM_030943.4:c.43+11A>C MANE Select	NP_112205.2:n.43+11A>C