Canonical Allele Identifier: CA7359686
Gene: AMN HGNC NCBI

Linked Data

ClinVar Variation Id: 2900670
ClinVar RCV Id: RCV003612094
dbSNP Id: rs765164769
ExAC: 14:103389079 A / G
gnomAD v2: 14-103389079-A-G
gnomAD v3: 14-102922742-A-G
gnomAD v4: 14-102922742-A-G
MyVariant Identifiers: chr14:g.103389079A>G (hg19) chr14:g.102922742A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922742A>G , CM000676.2:g.102922742A>G GRCh38
NC_000014.8:g.103389079A>G , CM000676.1:g.103389079A>G GRCh37
NC_000014.7:g.102458832A>G NCBI36
NG_008276.2:g.5087A>G , LRG_642:g.5087A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.43+11A>G MANE Select ENSP00000299155.6:n.43+11A>G
ENST00000299155.9:c.43+11A>G ENSP00000299155.5:n.43+11A>G
NM_030943.3:c.43+11A>G , LRG_642t1:c.43+11A>G NP_112205.2:n.43+11A>G
XM_011537202.1:c.-128A>G XP_011535504.1:n.-128A>G
XM_011537202.3:c.-128A>G XP_011535504.1:n.-128A>G
XM_024449714.1:c.139+11A>G XP_024305482.1:n.139+11A>G
NM_030943.4:c.43+11A>G MANE Select NP_112205.2:n.43+11A>G
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