Canonical Allele Identifier: CA144403
Gene: AMN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102930400C>T , CM000676.2:g.102930400C>T GRCh38
NC_000014.8:g.103396737C>T , CM000676.1:g.103396737C>T GRCh37
NC_000014.7:g.102466490C>T NCBI36
NG_008276.2:g.12745C>T , LRG_642:g.12745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.1170-6C>T MANE Select ENSP00000299155.6:n.1170-6C>T
ENST00000299155.9:c.1170-6C>T ENSP00000299155.5:n.1170-6C>T
ENST00000541086.5:n.1916-6C>T
ENST00000558590.1:n.1133-6C>T
ENST00000559507.1:n.222-6C>T
ENST00000559789.1:c.290-6C>T
NM_030943.3:c.1170-6C>T , LRG_642t1:c.1170-6C>T NP_112205.2:n.1170-6C>T
XM_011537202.1:c.1008-6C>T XP_011535504.1:n.1008-6C>T
XM_011537203.1:c.1008-6C>T XP_011535505.1:n.1008-6C>T
XM_011537202.3:c.1008-6C>T XP_011535504.1:n.1008-6C>T
XM_011537203.3:c.1008-6C>T XP_011535505.1:n.1008-6C>T
XM_024449714.1:c.1266-6C>T XP_024305482.1:n.1266-6C>T
NM_030943.4:c.1170-6C>T MANE Select NP_112205.2:n.1170-6C>T