Canonical Allele Identifier: CA616397819

Gene: AMN

Linked Data

• dbSNP Id: rs1891080270
• gnomAD v2: 14-103388996-T-C
• gnomAD v4: 14-102922659-T-C
• MyVariant Identifiers: chr14:g.103388996_103388997delinsCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922659T>C , CM000676.2:g.102922659T>C	GRCh38
NC_000014.8:g.103388996T>C , CM000676.1:g.103388996T>C	GRCh37
NC_000014.7:g.102458749T>C	NCBI36
NG_008276.2:g.5004T>C , LRG_642:g.5004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.9:c.-30T>C	ENSP00000299155.5:n.-30T>C
NM_030943.3:c.-30T>C , LRG_642t1:c.-30T>C	NP_112205.2:n.-30T>C
XM_011537202.1:c.-211T>C	XP_011535504.1:n.-211T>C
XM_011537202.3:c.-211T>C	XP_011535504.1:n.-211T>C
XM_024449714.1:c.67T>C	XP_024305482.1:p.Ser23Pro