Canonical Allele Identifier: CA152715897

Gene: AMZ1

Linked Data

• dbSNP Id: rs1024031741
• gnomAD v2: 7-2763170-G-C
• gnomAD v3: 7-2723536-G-C
• gnomAD v4: 7-2723536-G-C
• MyVariant Identifiers: chr7:g.2763170G>C (hg19) ; chr7:g.2723536G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723536G>C , CM000669.2:g.2723536G>C	GRCh38
NC_000007.13:g.2763170G>C , CM000669.1:g.2763170G>C	GRCh37
NC_000007.12:g.2729696G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13720G>C
XM_011515151.1:c.778+13720G>C	XP_011513453.1:n.778+13720G>C
NM_001321766.1:c.948+13720G>C	NP_001308695.1:n.948+13720G>C
XM_011515151.3:c.778+13720G>C	XP_011513453.1:n.778+13720G>C
XM_017011774.2:c.778+13720G>C	XP_016867263.1:n.778+13720G>C
NM_001321766.2:c.948+13720G>C	NP_001308695.1:n.948+13720G>C
NM_001384740.1:c.948+13720G>C	NP_001371669.1:n.948+13720G>C
NM_001384741.1:c.779-7485G>C	NP_001371670.1:n.779-7485G>C
NM_001384742.1:c.779-945G>C	NP_001371671.1:n.779-945G>C