Canonical Allele Identifier: CA2160048570
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs1358658629
gnomAD v4: 14-102922779-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922779A>G , CM000676.2:g.102922779A>G GRCh38
NC_000014.8:g.103389116A>G , CM000676.1:g.103389116A>G GRCh37
NC_000014.7:g.102458869A>G NCBI36
NG_008276.2:g.5124A>G , LRG_642:g.5124A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.43+48A>G MANE Select ENSP00000299155.6:n.43+48A>G
ENST00000299155.9:c.43+48A>G ENSP00000299155.5:n.43+48A>G
NM_030943.3:c.43+48A>G , LRG_642t1:c.43+48A>G NP_112205.2:n.43+48A>G
XM_011537202.1:c.-120+29A>G XP_011535504.1:n.-120+29A>G
XM_011537202.3:c.-120+29A>G XP_011535504.1:n.-120+29A>G
XM_024449714.1:c.139+48A>G XP_024305482.1:n.139+48A>G
NM_030943.4:c.43+48A>G MANE Select NP_112205.2:n.43+48A>G
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