Canonical Allele Identifier: CA391078923

Gene: AMN

Linked Data

• gnomAD v4: 14-102922698-C-G
• MyVariant Identifiers: chr14:g.103389035C>G (hg19) ; chr14:g.102922698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922698C>G , CM000676.2:g.102922698C>G	GRCh38
NC_000014.8:g.103389035C>G , CM000676.1:g.103389035C>G	GRCh37
NC_000014.7:g.102458788C>G	NCBI36
NG_008276.2:g.5043C>G , LRG_642:g.5043C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.10C>G MANE Select	ENSP00000299155.6:p.Leu4Val
ENST00000299155.9:c.10C>G	ENSP00000299155.5:p.Leu4Val
NM_030943.3:c.10C>G , LRG_642t1:c.10C>G	NP_112205.2:p.Leu4Val
XM_011537202.1:c.-172C>G	XP_011535504.1:n.-172C>G
XM_011537202.3:c.-172C>G	XP_011535504.1:n.-172C>G
XM_024449714.1:c.106C>G	XP_024305482.1:p.Leu36Val
NM_030943.4:c.10C>G MANE Select	NP_112205.2:p.Leu4Val