Canonical Allele Identifier: CA2626672743
Gene: AMN HGNC NCBI

Linked Data

gnomAD v4: 14-102922808-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922808T>A , CM000676.2:g.102922808T>A GRCh38
NC_000014.8:g.103389145T>A , CM000676.1:g.103389145T>A GRCh37
NC_000014.7:g.102458898T>A NCBI36
NG_008276.2:g.5153T>A , LRG_642:g.5153T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.43+77T>A MANE Select ENSP00000299155.6:n.43+77T>A
ENST00000299155.9:c.43+77T>A ENSP00000299155.5:n.43+77T>A
NM_030943.3:c.43+77T>A , LRG_642t1:c.43+77T>A NP_112205.2:n.43+77T>A
XM_011537202.1:c.-120+58T>A XP_011535504.1:n.-120+58T>A
XM_011537202.3:c.-120+58T>A XP_011535504.1:n.-120+58T>A
XM_024449714.1:c.139+77T>A XP_024305482.1:n.139+77T>A
NM_030943.4:c.43+77T>A MANE Select NP_112205.2:n.43+77T>A
Search 100 bp 5'
Search 100 bp 3'