Canonical Allele Identifier: CA488192474
Community Standard Title: NM_030943.4(AMN):c.1014C>A (p.Ala338=)
Gene: AMN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102930172C>A , CM000676.2:g.102930172C>A GRCh38
NC_000014.8:g.103396509C>A , CM000676.1:g.103396509C>A GRCh37
NC_000014.7:g.102466262C>A NCBI36
NG_008276.2:g.12517C>A , LRG_642:g.12517C>A

Transcript Alleles

HGVS Amino-acid Change
NM_030943.4:c.1014C>A MANE Select NP_112205.2:p.Ala338=
ENST00000299155.10:c.1014C>A MANE Select ENSP00000299155.6:p.Ala338=
NM_030943.3:c.1014C>A , LRG_642t1:c.1014C>A NP_112205.2:p.Ala338=
ENST00000299155.9:c.1014C>A ENSP00000299155.5:p.Ala338=
ENST00000541086.5:n.1760C>A
ENST00000558590.1:n.977C>A
ENST00000559507.1:n.66C>A
ENST00000559789.1:c.134C>A
XM_011537202.1:c.852C>A XP_011535504.1:p.Ala284=
XM_011537202.3:c.852C>A XP_011535504.1:p.Ala284=
XM_011537203.1:c.852C>A XP_011535505.1:p.Ala284=
XM_011537203.3:c.852C>A XP_011535505.1:p.Ala284=
XM_024449714.1:c.1110C>A XP_024305482.1:p.Ala370=