Canonical Allele Identifier: CA267172339
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs112794792
gnomAD v2: 14-103388960-A-G
gnomAD v3: 14-102922623-A-G
gnomAD v4: 14-102922623-A-G
MyVariant Identifiers: chr14:g.103388960A>G (hg19) chr14:g.102922623A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922623A>G , CM000676.2:g.102922623A>G GRCh38
NC_000014.8:g.103388960A>G , CM000676.1:g.103388960A>G GRCh37
NC_000014.7:g.102458713A>G NCBI36
NG_008276.2:g.4968A>G , LRG_642:g.4968A>G

Transcript Alleles

HGVS Amino-acid Change
XM_011537202.1:c.-247A>G XP_011535504.1:n.-247A>G
XM_011537202.3:c.-247A>G XP_011535504.1:n.-247A>G
XM_024449714.1:c.31A>G XP_024305482.1:p.Thr11Ala
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