Canonical Allele Identifier: CA2774173167
Gene: AMZ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2723672C>A , CM000669.2:g.2723672C>A GRCh38
NC_000007.13:g.2763306C>A , CM000669.1:g.2763306C>A GRCh37
NC_000007.12:g.2729832C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000489665.1:n.550+13856C>A
XM_011515151.1:c.778+13856C>A XP_011513453.1:n.778+13856C>A
NM_001321766.1:c.948+13856C>A NP_001308695.1:n.948+13856C>A
XM_011515151.3:c.778+13856C>A XP_011513453.1:n.778+13856C>A
XM_017011774.2:c.778+13856C>A XP_016867263.1:n.778+13856C>A
NM_001321766.2:c.948+13856C>A NP_001308695.1:n.948+13856C>A
NM_001384740.1:c.948+13856C>A NP_001371669.1:n.948+13856C>A
NM_001384741.1:c.779-7349C>A NP_001371670.1:n.779-7349C>A
NM_001384742.1:c.779-809C>A NP_001371671.1:n.779-809C>A
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