Canonical Allele Identifier: CA572183678

Gene: AMZ1

Linked Data

• dbSNP Id: rs1342202955
• gnomAD v2: 7-2763437-C-A
• gnomAD v3: 7-2723803-C-A
• gnomAD v4: 7-2723803-C-A
• MyVariant Identifiers: chr7:g.2763437C>A (hg19) ; chr7:g.2723803C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723803C>A , CM000669.2:g.2723803C>A	GRCh38
NC_000007.13:g.2763437C>A , CM000669.1:g.2763437C>A	GRCh37
NC_000007.12:g.2729963C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13987C>A
XM_011515151.1:c.778+13987C>A	XP_011513453.1:n.778+13987C>A
NM_001321766.1:c.948+13987C>A	NP_001308695.1:n.948+13987C>A
XM_011515151.3:c.778+13987C>A	XP_011513453.1:n.778+13987C>A
XM_017011774.2:c.778+13987C>A	XP_016867263.1:n.778+13987C>A
NM_001321766.2:c.948+13987C>A	NP_001308695.1:n.948+13987C>A
NM_001384740.1:c.948+13987C>A	NP_001371669.1:n.948+13987C>A
NM_001384741.1:c.779-7218C>A	NP_001371670.1:n.779-7218C>A
NM_001384742.1:c.779-678C>A	NP_001371671.1:n.779-678C>A