Canonical Allele Identifier: CA267174725

Gene: AMN

Linked Data

• dbSNP Id: rs1043838944
• gnomAD v3: 14-102928343-C-T
• gnomAD v4: 14-102928343-C-T
• MyVariant Identifiers: chr14:g.103394680C>T (hg19) ; chr14:g.102928343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102928343C>T , CM000676.2:g.102928343C>T	GRCh38
NC_000014.8:g.103394680C>T , CM000676.1:g.103394680C>T	GRCh37
NC_000014.7:g.102464433C>T	NCBI36
NG_008276.2:g.10688C>T , LRG_642:g.10688C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299155.10:c.208-83C>T MANE Select	ENSP00000299155.6:n.208-83C>T
ENST00000299155.9:c.208-83C>T	ENSP00000299155.5:n.208-83C>T
ENST00000541086.5:n.954-83C>T
NM_030943.3:c.208-83C>T , LRG_642t1:c.208-83C>T	NP_112205.2:n.208-83C>T
XM_011537202.1:c.46-83C>T	XP_011535504.1:n.46-83C>T
XM_011537203.1:c.46-83C>T	XP_011535505.1:n.46-83C>T
XM_011537202.3:c.46-83C>T	XP_011535504.1:n.46-83C>T
XM_011537203.3:c.46-83C>T	XP_011535505.1:n.46-83C>T
XM_024449714.1:c.304-83C>T	XP_024305482.1:n.304-83C>T
NM_030943.4:c.208-83C>T MANE Select	NP_112205.2:n.208-83C>T