Canonical Allele Identifier: CA391078935

Gene: AMN

Linked Data

• dbSNP Id: rs1891082878
• gnomAD v4: 14-102922705-G-C
• MyVariant Identifiers: chr14:g.103389042G>C (hg19) ; chr14:g.102922705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922705G>C , CM000676.2:g.102922705G>C	GRCh38
NC_000014.8:g.103389042G>C , CM000676.1:g.103389042G>C	GRCh37
NC_000014.7:g.102458795G>C	NCBI36
NG_008276.2:g.5050G>C , LRG_642:g.5050G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.17G>C MANE Select	ENSP00000299155.6:p.Arg6Pro
ENST00000299155.9:c.17G>C	ENSP00000299155.5:p.Arg6Pro
NM_030943.3:c.17G>C , LRG_642t1:c.17G>C	NP_112205.2:p.Arg6Pro
XM_011537202.1:c.-165G>C	XP_011535504.1:n.-165G>C
XM_011537202.3:c.-165G>C	XP_011535504.1:n.-165G>C
XM_024449714.1:c.113G>C	XP_024305482.1:p.Arg38Pro
NM_030943.4:c.17G>C MANE Select	NP_112205.2:p.Arg6Pro