Canonical Allele Identifier: CA391078989
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs1443968292
gnomAD v2: 14-103389068-G-A
gnomAD v4: 14-102922731-G-A
MyVariant Identifiers: chr14:g.103389068G>A (hg19) chr14:g.102922731G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922731G>A , CM000676.2:g.102922731G>A GRCh38
NC_000014.8:g.103389068G>A , CM000676.1:g.103389068G>A GRCh37
NC_000014.7:g.102458821G>A NCBI36
NG_008276.2:g.5076G>A , LRG_642:g.5076G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.43G>A MANE Select ENSP00000299155.6:p.Ala15Thr
ENST00000299155.9:c.43G>A ENSP00000299155.5:p.Ala15Thr
NM_030943.3:c.43G>A , LRG_642t1:c.43G>A NP_112205.2:p.Ala15Thr
XM_011537202.1:c.-139G>A XP_011535504.1:n.-139G>A
XM_011537202.3:c.-139G>A XP_011535504.1:n.-139G>A
XM_024449714.1:c.139G>A XP_024305482.1:p.Ala47Thr
NM_030943.4:c.43G>A MANE Select NP_112205.2:p.Ala15Thr
Search 100 bp 5'
Search 100 bp 3'