Canonical Allele Identifier: CA7359673
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs757797348
ExAC: 14:103389022 C / T
gnomAD v2: 14-103389022-C-T
gnomAD v3: 14-102922685-C-T
gnomAD v4: 14-102922685-C-T
MyVariant Identifiers: chr14:g.103389022C>T (hg19) chr14:g.102922685C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922685C>T , CM000676.2:g.102922685C>T GRCh38
NC_000014.8:g.103389022C>T , CM000676.1:g.103389022C>T GRCh37
NC_000014.7:g.102458775C>T NCBI36
NG_008276.2:g.5030C>T , LRG_642:g.5030C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.-4C>T MANE Select ENSP00000299155.6:n.-4C>T
ENST00000299155.9:c.-4C>T ENSP00000299155.5:n.-4C>T
NM_030943.3:c.-4C>T , LRG_642t1:c.-4C>T NP_112205.2:n.-4C>T
XM_011537202.1:c.-185C>T XP_011535504.1:n.-185C>T
XM_011537202.3:c.-185C>T XP_011535504.1:n.-185C>T
XM_024449714.1:c.93C>T XP_024305482.1:p.Gly31=
NM_030943.4:c.-4C>T MANE Select NP_112205.2:n.-4C>T
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