Canonical Allele Identifier: CA391078950
Gene: AMN HGNC NCBI

Linked Data

gnomAD v4: 14-102922714-T-C
MyVariant Identifiers: chr14:g.103389051T>C (hg19) chr14:g.102922714T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922714T>C , CM000676.2:g.102922714T>C GRCh38
NC_000014.8:g.103389051T>C , CM000676.1:g.103389051T>C GRCh37
NC_000014.7:g.102458804T>C NCBI36
NG_008276.2:g.5059T>C , LRG_642:g.5059T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.26T>C MANE Select ENSP00000299155.6:p.Leu9Pro
ENST00000299155.9:c.26T>C ENSP00000299155.5:p.Leu9Pro
NM_030943.3:c.26T>C , LRG_642t1:c.26T>C NP_112205.2:p.Leu9Pro
XM_011537202.1:c.-156T>C XP_011535504.1:n.-156T>C
XM_011537202.3:c.-156T>C XP_011535504.1:n.-156T>C
XM_024449714.1:c.122T>C XP_024305482.1:p.Leu41Pro
NM_030943.4:c.26T>C MANE Select NP_112205.2:p.Leu9Pro
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