Canonical Allele Identifier: CA267172608

Gene: AMN

Linked Data

• dbSNP Id: rs532118413
• gnomAD v3: 14-102922789-G-A
• gnomAD v4: 14-102922789-G-A
• MyVariant Identifiers: chr14:g.103389126G>A (hg19) ; chr14:g.102922789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922789G>A , CM000676.2:g.102922789G>A	GRCh38
NC_000014.8:g.103389126G>A , CM000676.1:g.103389126G>A	GRCh37
NC_000014.7:g.102458879G>A	NCBI36
NG_008276.2:g.5134G>A , LRG_642:g.5134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.43+58G>A MANE Select	ENSP00000299155.6:n.43+58G>A
ENST00000299155.9:c.43+58G>A	ENSP00000299155.5:n.43+58G>A
NM_030943.3:c.43+58G>A , LRG_642t1:c.43+58G>A	NP_112205.2:n.43+58G>A
XM_011537202.1:c.-120+39G>A	XP_011535504.1:n.-120+39G>A
XM_011537202.3:c.-120+39G>A	XP_011535504.1:n.-120+39G>A
XM_024449714.1:c.139+58G>A	XP_024305482.1:n.139+58G>A
NM_030943.4:c.43+58G>A MANE Select	NP_112205.2:n.43+58G>A