Canonical Allele Identifier: CA391078918

Gene: AMN

Linked Data

• dbSNP Id: rs889436372
• gnomAD v2: 14-103389032-G-T
• gnomAD v3: 14-102922695-G-T
• gnomAD v4: 14-102922695-G-T
• MyVariant Identifiers: chr14:g.103389032G>T (hg19) ; chr14:g.102922695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922695G>T , CM000676.2:g.102922695G>T	GRCh38
NC_000014.8:g.103389032G>T , CM000676.1:g.103389032G>T	GRCh37
NC_000014.7:g.102458785G>T	NCBI36
NG_008276.2:g.5040G>T , LRG_642:g.5040G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.7G>T MANE Select	ENSP00000299155.6:p.Val3Phe
ENST00000299155.9:c.7G>T	ENSP00000299155.5:p.Val3Phe
NM_030943.3:c.7G>T , LRG_642t1:c.7G>T	NP_112205.2:p.Val3Phe
XM_011537202.1:c.-175G>T	XP_011535504.1:n.-175G>T
XM_011537202.3:c.-175G>T	XP_011535504.1:n.-175G>T
XM_024449714.1:c.103G>T	XP_024305482.1:p.Val35Phe
NM_030943.4:c.7G>T MANE Select	NP_112205.2:p.Val3Phe