Canonical Allele Identifier: CA2505782767

Gene: AMN

Linked Data

• gnomAD v4: 14-102922657-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922657T>C , CM000676.2:g.102922657T>C	GRCh38
NC_000014.8:g.103388994T>C , CM000676.1:g.103388994T>C	GRCh37
NC_000014.7:g.102458747T>C	NCBI36
NG_008276.2:g.5002T>C , LRG_642:g.5002T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.9:c.-32T>C	ENSP00000299155.5:n.-32T>C
NM_030943.3:c.-32T>C , LRG_642t1:c.-32T>C	NP_112205.2:n.-32T>C
XM_011537202.1:c.-213T>C	XP_011535504.1:n.-213T>C
XM_011537202.3:c.-213T>C	XP_011535504.1:n.-213T>C
XM_024449714.1:c.65T>C	XP_024305482.1:p.Val22Ala