Canonical Allele Identifier: CA7359654
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs780798513
ExAC: 14:103388986 G / A
gnomAD v2: 14-103388986-G-A
gnomAD v3: 14-102922649-G-A
gnomAD v4: 14-102922649-G-A
MyVariant Identifiers: chr14:g.103388986G>A (hg19) chr14:g.102922649G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922649G>A , CM000676.2:g.102922649G>A GRCh38
NC_000014.8:g.103388986G>A , CM000676.1:g.103388986G>A GRCh37
NC_000014.7:g.102458739G>A NCBI36
NG_008276.2:g.4994G>A , LRG_642:g.4994G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011537202.1:c.-221G>A XP_011535504.1:n.-221G>A
XM_011537202.3:c.-221G>A XP_011535504.1:n.-221G>A
XM_024449714.1:c.57G>A XP_024305482.1:p.Trp19Ter
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