Canonical Allele Identifier: CA13951152
Gene: AMN HGNC NCBI

Linked Data

ClinVar Variation Id: 1286303
ClinVar RCV Id: RCV001710085
dbSNP Id: rs59793431
gnomAD v2: 14-103388939-C-G
gnomAD v3: 14-102922602-C-G
gnomAD v4: 14-102922602-C-G
MyVariant Identifiers: chr14:g.103388939C>G (hg19) chr14:g.102922602C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922602C>G , CM000676.2:g.102922602C>G GRCh38
NC_000014.8:g.103388939C>G , CM000676.1:g.103388939C>G GRCh37
NC_000014.7:g.102458692C>G NCBI36
NG_008276.2:g.4947C>G , LRG_642:g.4947C>G

Transcript Alleles

HGVS Amino-acid Change
XM_011537202.1:c.-268C>G XP_011535504.1:n.-268C>G
XM_011537202.3:c.-268C>G XP_011535504.1:n.-268C>G
XM_024449714.1:c.10C>G XP_024305482.1:p.Arg4Gly
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