Canonical Allele Identifier: CA7359672
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs752133468
ExAC: 14:103389021 G / A
gnomAD v2: 14-103389021-G-A
gnomAD v4: 14-102922684-G-A
MyVariant Identifiers: chr14:g.103389021G>A (hg19) chr14:g.102922684G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922684G>A , CM000676.2:g.102922684G>A GRCh38
NC_000014.8:g.103389021G>A , CM000676.1:g.103389021G>A GRCh37
NC_000014.7:g.102458774G>A NCBI36
NG_008276.2:g.5029G>A , LRG_642:g.5029G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.-5G>A MANE Select ENSP00000299155.6:n.-5G>A
ENST00000299155.9:c.-5G>A ENSP00000299155.5:n.-5G>A
NM_030943.3:c.-5G>A , LRG_642t1:c.-5G>A NP_112205.2:n.-5G>A
XM_011537202.1:c.-186G>A XP_011535504.1:n.-186G>A
XM_011537202.3:c.-186G>A XP_011535504.1:n.-186G>A
XM_024449714.1:c.92G>A XP_024305482.1:p.Gly31Asp
NM_030943.4:c.-5G>A MANE Select NP_112205.2:n.-5G>A
Search 100 bp 5'
Search 100 bp 3'