Canonical Allele Identifier: CA267172339

Gene: AMN

Linked Data

• dbSNP Id: rs112794792
• gnomAD v2: 14-103388960-A-G
• gnomAD v3: 14-102922623-A-G
• gnomAD v4: 14-102922623-A-G
• MyVariant Identifiers: chr14:g.103388960A>G (hg19) ; chr14:g.102922623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922623A>G , CM000676.2:g.102922623A>G	GRCh38
NC_000014.8:g.103388960A>G , CM000676.1:g.103388960A>G	GRCh37
NC_000014.7:g.102458713A>G	NCBI36
NG_008276.2:g.4968A>G , LRG_642:g.4968A>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011537202.1:c.-247A>G	XP_011535504.1:n.-247A>G
XM_011537202.3:c.-247A>G	XP_011535504.1:n.-247A>G
XM_024449714.1:c.31A>G	XP_024305482.1:p.Thr11Ala