Canonical Allele Identifier: CA2160048572
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs1891085873
gnomAD v4: 14-102922780-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922780G>A , CM000676.2:g.102922780G>A GRCh38
NC_000014.8:g.103389117G>A , CM000676.1:g.103389117G>A GRCh37
NC_000014.7:g.102458870G>A NCBI36
NG_008276.2:g.5125G>A , LRG_642:g.5125G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.43+49G>A MANE Select ENSP00000299155.6:n.43+49G>A
ENST00000299155.9:c.43+49G>A ENSP00000299155.5:n.43+49G>A
NM_030943.3:c.43+49G>A , LRG_642t1:c.43+49G>A NP_112205.2:n.43+49G>A
XM_011537202.1:c.-120+30G>A XP_011535504.1:n.-120+30G>A
XM_011537202.3:c.-120+30G>A XP_011535504.1:n.-120+30G>A
XM_024449714.1:c.139+49G>A XP_024305482.1:n.139+49G>A
NM_030943.4:c.43+49G>A MANE Select NP_112205.2:n.43+49G>A
Search 100 bp 5'
Search 100 bp 3'