Canonical Allele Identifier: CA2580716920

Gene: AMZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723806G>T , CM000669.2:g.2723806G>T	GRCh38
NC_000007.13:g.2763440G>T , CM000669.1:g.2763440G>T	GRCh37
NC_000007.12:g.2729966G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13990G>T
XM_011515151.1:c.778+13990G>T	XP_011513453.1:n.778+13990G>T
NM_001321766.1:c.948+13990G>T	NP_001308695.1:n.948+13990G>T
XM_011515151.3:c.778+13990G>T	XP_011513453.1:n.778+13990G>T
XM_017011774.2:c.778+13990G>T	XP_016867263.1:n.778+13990G>T
NM_001321766.2:c.948+13990G>T	NP_001308695.1:n.948+13990G>T
NM_001384740.1:c.948+13990G>T	NP_001371669.1:n.948+13990G>T
NM_001384741.1:c.779-7215G>T	NP_001371670.1:n.779-7215G>T
NM_001384742.1:c.779-675G>T	NP_001371671.1:n.779-675G>T