Canonical Allele Identifier: CA7359657
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs769523726
ExAC: 14:103388991 A / C
gnomAD v2: 14-103388991-A-C
gnomAD v3: 14-102922654-A-C
gnomAD v4: 14-102922654-A-C
MyVariant Identifiers: chr14:g.103388991A>C (hg19) chr14:g.102922654A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922654A>C , CM000676.2:g.102922654A>C GRCh38
NC_000014.8:g.103388991A>C , CM000676.1:g.103388991A>C GRCh37
NC_000014.7:g.102458744A>C NCBI36
NG_008276.2:g.4999A>C , LRG_642:g.4999A>C

Transcript Alleles

HGVS Amino-acid Change
XM_011537202.1:c.-216A>C XP_011535504.1:n.-216A>C
XM_011537202.3:c.-216A>C XP_011535504.1:n.-216A>C
XM_024449714.1:c.62A>C XP_024305482.1:p.Lys21Thr
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