Canonical Allele Identifier: CA966748359

Gene: AMN

Linked Data

• dbSNP Id: rs1555381164
• gnomAD v3: 14-102928341-C-T
• gnomAD v4: 14-102928341-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102928341C>T , CM000676.2:g.102928341C>T	GRCh38
NC_000014.8:g.103394678C>T , CM000676.1:g.103394678C>T	GRCh37
NC_000014.7:g.102464431C>T	NCBI36
NG_008276.2:g.10686C>T , LRG_642:g.10686C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299155.10:c.208-85C>T MANE Select	ENSP00000299155.6:n.208-85C>T
ENST00000299155.9:c.208-85C>T	ENSP00000299155.5:n.208-85C>T
ENST00000541086.5:n.954-85C>T
NM_030943.3:c.208-85C>T , LRG_642t1:c.208-85C>T	NP_112205.2:n.208-85C>T
XM_011537202.1:c.46-85C>T	XP_011535504.1:n.46-85C>T
XM_011537203.1:c.46-85C>T	XP_011535505.1:n.46-85C>T
XM_011537202.3:c.46-85C>T	XP_011535504.1:n.46-85C>T
XM_011537203.3:c.46-85C>T	XP_011535505.1:n.46-85C>T
XM_024449714.1:c.304-85C>T	XP_024305482.1:n.304-85C>T
NM_030943.4:c.208-85C>T MANE Select	NP_112205.2:n.208-85C>T