Canonical Allele Identifier: CA837193380

Gene: AMZ1

Linked Data

• dbSNP Id: rs1242182495
• gnomAD v3: 7-2723488-A-G
• gnomAD v4: 7-2723488-A-G
• MyVariant Identifiers: chr7:g.2763122A>G (hg19) ; chr7:g.2723488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723488A>G , CM000669.2:g.2723488A>G	GRCh38
NC_000007.13:g.2763122A>G , CM000669.1:g.2763122A>G	GRCh37
NC_000007.12:g.2729648A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000489665.1:n.550+13672A>G
XM_011515151.1:c.778+13672A>G	XP_011513453.1:n.778+13672A>G
NM_001321766.1:c.948+13672A>G	NP_001308695.1:n.948+13672A>G
XM_011515151.3:c.778+13672A>G	XP_011513453.1:n.778+13672A>G
XM_017011774.2:c.778+13672A>G	XP_016867263.1:n.778+13672A>G
NM_001321766.2:c.948+13672A>G	NP_001308695.1:n.948+13672A>G
NM_001384740.1:c.948+13672A>G	NP_001371669.1:n.948+13672A>G
NM_001384741.1:c.779-7533A>G	NP_001371670.1:n.779-7533A>G
NM_001384742.1:c.779-993A>G	NP_001371671.1:n.779-993A>G