Canonical Allele Identifier: CA2626672683
Gene: AMN HGNC NCBI

Linked Data

gnomAD v4: 14-102922783-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922783C>A , CM000676.2:g.102922783C>A GRCh38
NC_000014.8:g.103389120C>A , CM000676.1:g.103389120C>A GRCh37
NC_000014.7:g.102458873C>A NCBI36
NG_008276.2:g.5128C>A , LRG_642:g.5128C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.43+52C>A MANE Select ENSP00000299155.6:n.43+52C>A
ENST00000299155.9:c.43+52C>A ENSP00000299155.5:n.43+52C>A
NM_030943.3:c.43+52C>A , LRG_642t1:c.43+52C>A NP_112205.2:n.43+52C>A
XM_011537202.1:c.-120+33C>A XP_011535504.1:n.-120+33C>A
XM_011537202.3:c.-120+33C>A XP_011535504.1:n.-120+33C>A
XM_024449714.1:c.139+52C>A XP_024305482.1:n.139+52C>A
NM_030943.4:c.43+52C>A MANE Select NP_112205.2:n.43+52C>A
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