Canonical Allele Identifier: CA2626672730
Gene: AMN HGNC NCBI

Linked Data

gnomAD v4: 14-102922800-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922800T>C , CM000676.2:g.102922800T>C GRCh38
NC_000014.8:g.103389137T>C , CM000676.1:g.103389137T>C GRCh37
NC_000014.7:g.102458890T>C NCBI36
NG_008276.2:g.5145T>C , LRG_642:g.5145T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.43+69T>C MANE Select ENSP00000299155.6:n.43+69T>C
ENST00000299155.9:c.43+69T>C ENSP00000299155.5:n.43+69T>C
NM_030943.3:c.43+69T>C , LRG_642t1:c.43+69T>C NP_112205.2:n.43+69T>C
XM_011537202.1:c.-120+50T>C XP_011535504.1:n.-120+50T>C
XM_011537202.3:c.-120+50T>C XP_011535504.1:n.-120+50T>C
XM_024449714.1:c.139+69T>C XP_024305482.1:n.139+69T>C
NM_030943.4:c.43+69T>C MANE Select NP_112205.2:n.43+69T>C
Search 100 bp 5'
Search 100 bp 3'