Canonical Allele Identifier: CA391078940

Gene: AMN

Linked Data

• gnomAD v4: 14-102922708-T-C
• COSMIC: COSM4627238
• MyVariant Identifiers: chr14:g.103389045T>C (hg19) ; chr14:g.102922708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922708T>C , CM000676.2:g.102922708T>C	GRCh38
NC_000014.8:g.103389045T>C , CM000676.1:g.103389045T>C	GRCh37
NC_000014.7:g.102458798T>C	NCBI36
NG_008276.2:g.5053T>C , LRG_642:g.5053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.20T>C MANE Select	ENSP00000299155.6:p.Val7Ala
ENST00000299155.9:c.20T>C	ENSP00000299155.5:p.Val7Ala
NM_030943.3:c.20T>C , LRG_642t1:c.20T>C	NP_112205.2:p.Val7Ala
XM_011537202.1:c.-162T>C	XP_011535504.1:n.-162T>C
XM_011537202.3:c.-162T>C	XP_011535504.1:n.-162T>C
XM_024449714.1:c.116T>C	XP_024305482.1:p.Val39Ala
NM_030943.4:c.20T>C MANE Select	NP_112205.2:p.Val7Ala