Canonical Allele Identifier: CA837193322

Gene: AMZ1

Linked Data

• dbSNP Id: rs528516337
• gnomAD v3: 7-2723412-G-A
• gnomAD v4: 7-2723412-G-A
• MyVariant Identifiers: chr7:g.2763046G>A (hg19) ; chr7:g.2723412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723412G>A , CM000669.2:g.2723412G>A	GRCh38
NC_000007.13:g.2763046G>A , CM000669.1:g.2763046G>A	GRCh37
NC_000007.12:g.2729572G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000489665.1:n.550+13596G>A
XM_011515151.1:c.778+13596G>A	XP_011513453.1:n.778+13596G>A
NM_001321766.1:c.948+13596G>A	NP_001308695.1:n.948+13596G>A
XM_011515151.3:c.778+13596G>A	XP_011513453.1:n.778+13596G>A
XM_017011774.2:c.778+13596G>A	XP_016867263.1:n.778+13596G>A
NM_001321766.2:c.948+13596G>A	NP_001308695.1:n.948+13596G>A
NM_001384740.1:c.948+13596G>A	NP_001371669.1:n.948+13596G>A
NM_001384741.1:c.779-7609G>A	NP_001371670.1:n.779-7609G>A
NM_001384742.1:c.779-1069G>A	NP_001371671.1:n.779-1069G>A