Canonical Allele Identifier: CA7359662

Gene: AMN

Linked Data

• ClinVar Variation Id: 1243841
• ClinVar RCV Id: RCV001646002
• dbSNP Id: rs2295828
• ExAC: 14:103388999 T / C
• gnomAD v2: 14-103388999-T-C
• gnomAD v3: 14-102922662-T-C
• gnomAD v4: 14-102922662-T-C
• MyVariant Identifiers: chr14:g.103388999T>C (hg19) ; chr14:g.102922662T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922662T>C , CM000676.2:g.102922662T>C	GRCh38
NC_000014.8:g.103388999T>C , CM000676.1:g.103388999T>C	GRCh37
NC_000014.7:g.102458752T>C	NCBI36
NG_008276.2:g.5007T>C , LRG_642:g.5007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.9:c.-27T>C	ENSP00000299155.5:n.-27T>C
NM_030943.3:c.-27T>C , LRG_642t1:c.-27T>C	NP_112205.2:n.-27T>C
XM_011537202.1:c.-208T>C	XP_011535504.1:n.-208T>C
XM_011537202.3:c.-208T>C	XP_011535504.1:n.-208T>C
XM_024449714.1:c.70T>C	XP_024305482.1:p.Trp24Arg