Canonical Allele Identifier: CA7359688

Gene: AMN

Linked Data

• dbSNP Id: rs372711546
• ExAC: 14:103389092 G / A
• gnomAD v2: 14-103389092-G-A
• gnomAD v3: 14-102922755-G-A
• gnomAD v4: 14-102922755-G-A
• MyVariant Identifiers: chr14:g.103389092G>A (hg19) ; chr14:g.102922755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922755G>A , CM000676.2:g.102922755G>A	GRCh38
NC_000014.8:g.103389092G>A , CM000676.1:g.103389092G>A	GRCh37
NC_000014.7:g.102458845G>A	NCBI36
NG_008276.2:g.5100G>A , LRG_642:g.5100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.43+24G>A MANE Select	ENSP00000299155.6:n.43+24G>A
ENST00000299155.9:c.43+24G>A	ENSP00000299155.5:n.43+24G>A
NM_030943.3:c.43+24G>A , LRG_642t1:c.43+24G>A	NP_112205.2:n.43+24G>A
XM_011537202.1:c.-120+5G>A	XP_011535504.1:n.-120+5G>A
XM_011537202.3:c.-120+5G>A	XP_011535504.1:n.-120+5G>A
XM_024449714.1:c.139+24G>A	XP_024305482.1:n.139+24G>A
NM_030943.4:c.43+24G>A MANE Select	NP_112205.2:n.43+24G>A