Canonical Allele Identifier: CA1683313074

Gene: AMZ1

Linked Data

• dbSNP Id: rs1199115015
• gnomAD v3: 7-2723727-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723727G>C , CM000669.2:g.2723727G>C	GRCh38
NC_000007.13:g.2763361G>C , CM000669.1:g.2763361G>C	GRCh37
NC_000007.12:g.2729887G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13911G>C
XM_011515151.1:c.778+13911G>C	XP_011513453.1:n.778+13911G>C
NM_001321766.1:c.948+13911G>C	NP_001308695.1:n.948+13911G>C
XM_011515151.3:c.778+13911G>C	XP_011513453.1:n.778+13911G>C
XM_017011774.2:c.778+13911G>C	XP_016867263.1:n.778+13911G>C
NM_001321766.2:c.948+13911G>C	NP_001308695.1:n.948+13911G>C
NM_001384740.1:c.948+13911G>C	NP_001371669.1:n.948+13911G>C
NM_001384741.1:c.779-7294G>C	NP_001371670.1:n.779-7294G>C
NM_001384742.1:c.779-754G>C	NP_001371671.1:n.779-754G>C