Canonical Allele Identifier: CA616397809

Gene: AMN

Linked Data

• dbSNP Id: rs1463083992
• gnomAD v2: 14-103388966-C-G
• gnomAD v3: 14-102922629-C-G
• gnomAD v4: 14-102922629-C-G
• MyVariant Identifiers: chr14:g.103388966C>G (hg19) ; chr14:g.102922629C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922629C>G , CM000676.2:g.102922629C>G	GRCh38
NC_000014.8:g.103388966C>G , CM000676.1:g.103388966C>G	GRCh37
NC_000014.7:g.102458719C>G	NCBI36
NG_008276.2:g.4974C>G , LRG_642:g.4974C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011537202.1:c.-241C>G	XP_011535504.1:n.-241C>G
XM_011537202.3:c.-241C>G	XP_011535504.1:n.-241C>G
XM_024449714.1:c.37C>G	XP_024305482.1:p.Leu13Val