Canonical Allele Identifier: CA117064
Gene: AMN HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.102923789C>T
GRCh37 chr14:g.103390126C>T
Revel Score:
ENST00000299155 (MANE Select) 0.612
gnomAD v2:
14:103390126 C / T
gnomAD v3:
14:102923789 C / T
gnomAD v4:
chr14-102923789-C-T
Joint Max Group AF 0.00005381 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.0000551 (NFE)
ClinVar RCV:
RCV000005036
RCV001851660
ClinVar Variation:
4770
dbSNP:
119478058
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102923789C>T , CM000676.2:g.102923789C>T GRCh38
NC_000014.8:g.103390126C>T , CM000676.1:g.103390126C>T GRCh37
NC_000014.7:g.102459879C>T NCBI36
NG_008276.2:g.6134C>T , LRG_642:g.6134C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.122C>T MANE Select ENSP00000299155.6:p.Thr41Ile
ENST00000299155.9:c.122C>T ENSP00000299155.5:p.Thr41Ile
ENST00000541086.5:n.868C>T
NM_030943.3:c.122C>T , LRG_642t1:c.122C>T NP_112205.2:p.Thr41Ile
XM_011537202.1:c.-41C>T XP_011535504.1:n.-41C>T
XM_011537203.1:c.-41C>T XP_011535505.1:n.-41C>T
XM_011537202.3:c.-41C>T XP_011535504.1:n.-41C>T
XM_011537203.3:c.-41C>T XP_011535505.1:n.-41C>T
XM_024449714.1:c.218C>T XP_024305482.1:p.Thr73Ile
NM_030943.4:c.122C>T MANE Select NP_112205.2:p.Thr41Ile
Search 100 bp 5'
Search 100 bp 3'