Canonical Allele Identifier: CA391078947
Gene: AMN HGNC NCBI

Linked Data

gnomAD v4: 14-102922713-C-A
MyVariant Identifiers: chr14:g.103389050C>A (hg19) chr14:g.102922713C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922713C>A , CM000676.2:g.102922713C>A GRCh38
NC_000014.8:g.103389050C>A , CM000676.1:g.103389050C>A GRCh37
NC_000014.7:g.102458803C>A NCBI36
NG_008276.2:g.5058C>A , LRG_642:g.5058C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299155.10:c.25C>A MANE Select ENSP00000299155.6:p.Leu9Met
ENST00000299155.9:c.25C>A ENSP00000299155.5:p.Leu9Met
NM_030943.3:c.25C>A , LRG_642t1:c.25C>A NP_112205.2:p.Leu9Met
XM_011537202.1:c.-157C>A XP_011535504.1:n.-157C>A
XM_011537202.3:c.-157C>A XP_011535504.1:n.-157C>A
XM_024449714.1:c.121C>A XP_024305482.1:p.Leu41Met
NM_030943.4:c.25C>A MANE Select NP_112205.2:p.Leu9Met
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