Canonical Allele Identifier: CA7359665

Gene: AMN

Linked Data

• dbSNP Id: rs776734357
• ExAC: 14:103389000 G / T
• gnomAD v2: 14-103389000-G-T
• gnomAD v3: 14-102922663-G-T
• gnomAD v4: 14-102922663-G-T
• MyVariant Identifiers: chr14:g.103389000G>T (hg19) ; chr14:g.102922663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922663G>T , CM000676.2:g.102922663G>T	GRCh38
NC_000014.8:g.103389000G>T , CM000676.1:g.103389000G>T	GRCh37
NC_000014.7:g.102458753G>T	NCBI36
NG_008276.2:g.5008G>T , LRG_642:g.5008G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.-26G>T MANE Select	ENSP00000299155.6:n.-26G>T
ENST00000299155.9:c.-26G>T	ENSP00000299155.5:n.-26G>T
NM_030943.3:c.-26G>T , LRG_642t1:c.-26G>T	NP_112205.2:n.-26G>T
XM_011537202.1:c.-207G>T	XP_011535504.1:n.-207G>T
XM_011537202.3:c.-207G>T	XP_011535504.1:n.-207G>T
XM_024449714.1:c.71G>T	XP_024305482.1:p.Trp24Leu
NM_030943.4:c.-26G>T MANE Select	NP_112205.2:n.-26G>T