Canonical Allele Identifier: CA7359667
Gene: AMN HGNC NCBI

Linked Data

ClinVar Variation Id: 1262486
ClinVar RCV Id: RCV001669719
dbSNP Id: rs2295829
ExAC: 14:103389003 G / C
gnomAD v2: 14-103389003-G-C
gnomAD v3: 14-102922666-G-C
gnomAD v4: 14-102922666-G-C
MyVariant Identifiers: chr14:g.103389003G>C (hg19) chr14:g.102922666G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922666G>C , CM000676.2:g.102922666G>C GRCh38
NC_000014.8:g.103389003G>C , CM000676.1:g.103389003G>C GRCh37
NC_000014.7:g.102458756G>C NCBI36
NG_008276.2:g.5011G>C , LRG_642:g.5011G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.-23G>C MANE Select ENSP00000299155.6:n.-23G>C
ENST00000299155.9:c.-23G>C ENSP00000299155.5:n.-23G>C
NM_030943.3:c.-23G>C , LRG_642t1:c.-23G>C NP_112205.2:n.-23G>C
XM_011537202.1:c.-204G>C XP_011535504.1:n.-204G>C
XM_011537202.3:c.-204G>C XP_011535504.1:n.-204G>C
XM_024449714.1:c.74G>C XP_024305482.1:p.Trp25Ser
NM_030943.4:c.-23G>C MANE Select NP_112205.2:n.-23G>C
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