Canonical Allele Identifier: CA152716110

Gene: AMZ1

Linked Data

• dbSNP Id: rs181802697
• gnomAD v2: 7-2763309-A-C
• gnomAD v3: 7-2723675-A-C
• gnomAD v4: 7-2723675-A-C
• MyVariant Identifiers: chr7:g.2763309A>C (hg19) ; chr7:g.2723675A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723675A>C , CM000669.2:g.2723675A>C	GRCh38
NC_000007.13:g.2763309A>C , CM000669.1:g.2763309A>C	GRCh37
NC_000007.12:g.2729835A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13859A>C
XM_011515151.1:c.778+13859A>C	XP_011513453.1:n.778+13859A>C
NM_001321766.1:c.948+13859A>C	NP_001308695.1:n.948+13859A>C
XM_011515151.3:c.778+13859A>C	XP_011513453.1:n.778+13859A>C
XM_017011774.2:c.778+13859A>C	XP_016867263.1:n.778+13859A>C
NM_001321766.2:c.948+13859A>C	NP_001308695.1:n.948+13859A>C
NM_001384740.1:c.948+13859A>C	NP_001371669.1:n.948+13859A>C
NM_001384741.1:c.779-7346A>C	NP_001371670.1:n.779-7346A>C
NM_001384742.1:c.779-806A>C	NP_001371671.1:n.779-806A>C