Canonical Allele Identifier: CA7359676
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs755562339
ExAC: 14:103389039 G / A
gnomAD v2: 14-103389039-G-A
gnomAD v4: 14-102922702-G-A
MyVariant Identifiers: chr14:g.103389039G>A (hg19) chr14:g.102922702G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922702G>A , CM000676.2:g.102922702G>A GRCh38
NC_000014.8:g.103389039G>A , CM000676.1:g.103389039G>A GRCh37
NC_000014.7:g.102458792G>A NCBI36
NG_008276.2:g.5047G>A , LRG_642:g.5047G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.14G>A MANE Select ENSP00000299155.6:p.Gly5Asp
ENST00000299155.9:c.14G>A ENSP00000299155.5:p.Gly5Asp
NM_030943.3:c.14G>A , LRG_642t1:c.14G>A NP_112205.2:p.Gly5Asp
XM_011537202.1:c.-168G>A XP_011535504.1:n.-168G>A
XM_011537202.3:c.-168G>A XP_011535504.1:n.-168G>A
XM_024449714.1:c.110G>A XP_024305482.1:p.Gly37Asp
NM_030943.4:c.14G>A MANE Select NP_112205.2:p.Gly5Asp
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