Canonical Allele Identifier: CA616397805
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs1298006320
gnomAD v2: 14-103388950-C-T
gnomAD v3: 14-102922613-C-T
gnomAD v4: 14-102922613-C-T
MyVariant Identifiers: chr14:g.103388950C>T (hg19) chr14:g.102922613C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922613C>T , CM000676.2:g.102922613C>T GRCh38
NC_000014.8:g.103388950C>T , CM000676.1:g.103388950C>T GRCh37
NC_000014.7:g.102458703C>T NCBI36
NG_008276.2:g.4958C>T , LRG_642:g.4958C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011537202.1:c.-257C>T XP_011535504.1:n.-257C>T
XM_011537202.3:c.-257C>T XP_011535504.1:n.-257C>T
XM_024449714.1:c.21C>T XP_024305482.1:p.Cys7=
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