Canonical Allele Identifier: CA487995874

Gene: AMN

Linked Data

• gnomAD v4: 14-102922713-C-T
• MyVariant Identifiers: chr14:g.103389050C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.25C>T MANE Select	ENSP00000299155.6:p.Leu9=
ENST00000299155.9:c.25C>T	ENSP00000299155.5:p.Leu9=
NM_030943.3:c.25C>T , LRG_642t1:c.25C>T	NP_112205.2:p.Leu9=
XM_011537202.1:c.-157C>T	XP_011535504.1:n.-157C>T
XM_011537202.3:c.-157C>T	XP_011535504.1:n.-157C>T
XM_024449714.1:c.121C>T	XP_024305482.1:p.Leu41=
NM_030943.4:c.25C>T MANE Select	NP_112205.2:p.Leu9=