Canonical Allele Identifier: CA616397867

Gene: AMN

Linked Data

• dbSNP Id: rs1358658629
• gnomAD v2: 14-103389116-A-T
• gnomAD v3: 14-102922779-A-T
• gnomAD v4: 14-102922779-A-T
• MyVariant Identifiers: chr14:g.103389116A>T (hg19) ; chr14:g.102922779A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922779A>T , CM000676.2:g.102922779A>T	GRCh38
NC_000014.8:g.103389116A>T , CM000676.1:g.103389116A>T	GRCh37
NC_000014.7:g.102458869A>T	NCBI36
NG_008276.2:g.5124A>T , LRG_642:g.5124A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.43+48A>T MANE Select	ENSP00000299155.6:n.43+48A>T
ENST00000299155.9:c.43+48A>T	ENSP00000299155.5:n.43+48A>T
NM_030943.3:c.43+48A>T , LRG_642t1:c.43+48A>T	NP_112205.2:n.43+48A>T
XM_011537202.1:c.-120+29A>T	XP_011535504.1:n.-120+29A>T
XM_011537202.3:c.-120+29A>T	XP_011535504.1:n.-120+29A>T
XM_024449714.1:c.139+48A>T	XP_024305482.1:n.139+48A>T
NM_030943.4:c.43+48A>T MANE Select	NP_112205.2:n.43+48A>T