Canonical Allele Identifier: CA2160048462
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs1891079444
gnomAD v4: 14-102922628-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922628C>T , CM000676.2:g.102922628C>T GRCh38
NC_000014.8:g.103388965C>T , CM000676.1:g.103388965C>T GRCh37
NC_000014.7:g.102458718C>T NCBI36
NG_008276.2:g.4973C>T , LRG_642:g.4973C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011537202.1:c.-242C>T XP_011535504.1:n.-242C>T
XM_011537202.3:c.-242C>T XP_011535504.1:n.-242C>T
XM_024449714.1:c.36C>T XP_024305482.1:p.Cys12=
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