Canonical Allele Identifier: CA267174723

Gene: AMN

Linked Data

• dbSNP Id: rs945438925
• gnomAD v2: 14-103394676-T-G
• gnomAD v3: 14-102928339-T-G
• gnomAD v4: 14-102928339-T-G
• MyVariant Identifiers: chr14:g.103394676T>G (hg19) ; chr14:g.102928339T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102928339T>G , CM000676.2:g.102928339T>G	GRCh38
NC_000014.8:g.103394676T>G , CM000676.1:g.103394676T>G	GRCh37
NC_000014.7:g.102464429T>G	NCBI36
NG_008276.2:g.10684T>G , LRG_642:g.10684T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.208-87T>G MANE Select	ENSP00000299155.6:n.208-87T>G
ENST00000299155.9:c.208-87T>G	ENSP00000299155.5:n.208-87T>G
ENST00000541086.5:n.954-87T>G
NM_030943.3:c.208-87T>G , LRG_642t1:c.208-87T>G	NP_112205.2:n.208-87T>G
XM_011537202.1:c.46-87T>G	XP_011535504.1:n.46-87T>G
XM_011537203.1:c.46-87T>G	XP_011535505.1:n.46-87T>G
XM_011537202.3:c.46-87T>G	XP_011535504.1:n.46-87T>G
XM_011537203.3:c.46-87T>G	XP_011535505.1:n.46-87T>G
XM_024449714.1:c.304-87T>G	XP_024305482.1:n.304-87T>G
NM_030943.4:c.208-87T>G MANE Select	NP_112205.2:n.208-87T>G