Canonical Allele Identifier: CA837193698

Gene: AMZ1

Linked Data

• dbSNP Id: rs1204522974
• gnomAD v3: 7-2723820-A-T
• gnomAD v4: 7-2723820-A-T
• MyVariant Identifiers: chr7:g.2763454A>T (hg19) ; chr7:g.2723820A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723820A>T , CM000669.2:g.2723820A>T	GRCh38
NC_000007.13:g.2763454A>T , CM000669.1:g.2763454A>T	GRCh37
NC_000007.12:g.2729980A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+14004A>T
XM_011515151.1:c.778+14004A>T	XP_011513453.1:n.778+14004A>T
NM_001321766.1:c.948+14004A>T	NP_001308695.1:n.948+14004A>T
XM_011515151.3:c.778+14004A>T	XP_011513453.1:n.778+14004A>T
XM_017011774.2:c.778+14004A>T	XP_016867263.1:n.778+14004A>T
NM_001321766.2:c.948+14004A>T	NP_001308695.1:n.948+14004A>T
NM_001384740.1:c.948+14004A>T	NP_001371669.1:n.948+14004A>T
NM_001384741.1:c.779-7201A>T	NP_001371670.1:n.779-7201A>T
NM_001384742.1:c.779-661A>T	NP_001371671.1:n.779-661A>T