Canonical Allele Identifier: CA616397810

Gene: AMN

Linked Data

• dbSNP Id: rs1211438983
• gnomAD v2: 14-103388970-T-A
• gnomAD v3: 14-102922633-T-A
• gnomAD v4: 14-102922633-T-A
• MyVariant Identifiers: chr14:g.103388970T>A (hg19) ; chr14:g.102922633T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922633T>A , CM000676.2:g.102922633T>A	GRCh38
NC_000014.8:g.103388970T>A , CM000676.1:g.103388970T>A	GRCh37
NC_000014.7:g.102458723T>A	NCBI36
NG_008276.2:g.4978T>A , LRG_642:g.4978T>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011537202.1:c.-237T>A	XP_011535504.1:n.-237T>A
XM_011537202.3:c.-237T>A	XP_011535504.1:n.-237T>A
XM_024449714.1:c.41T>A	XP_024305482.1:p.Val14Asp