Canonical Allele Identifier: CA616397814

Gene: AMN

Linked Data

• dbSNP Id: rs1315594414
• gnomAD v2: 14-103388983-G-C
• gnomAD v4: 14-102922646-G-C
• MyVariant Identifiers: chr14:g.103388983G>C (hg19) ; chr14:g.102922646G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922646G>C , CM000676.2:g.102922646G>C	GRCh38
NC_000014.8:g.103388983G>C , CM000676.1:g.103388983G>C	GRCh37
NC_000014.7:g.102458736G>C	NCBI36
NG_008276.2:g.4991G>C , LRG_642:g.4991G>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011537202.1:c.-224G>C	XP_011535504.1:n.-224G>C
XM_011537202.3:c.-224G>C	XP_011535504.1:n.-224G>C
XM_024449714.1:c.54G>C	XP_024305482.1:p.Gln18His