Canonical Allele Identifier: CA1683313138
Gene: AMZ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2723815C= , CM000669.2:g.2723815C= GRCh38
NC_000007.13:g.2763449C= , CM000669.1:g.2763449C= GRCh37
NC_000007.12:g.2729975C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000489665.1:n.550+13999C=
XM_011515151.1:c.778+13999C= XP_011513453.1:n.778+13999C=
NM_001321766.1:c.948+13999C= NP_001308695.1:n.948+13999C=
XM_011515151.3:c.778+13999C= XP_011513453.1:n.778+13999C=
XM_017011774.2:c.778+13999C= XP_016867263.1:n.778+13999C=
NM_001321766.2:c.948+13999C= NP_001308695.1:n.948+13999C=
NM_001384740.1:c.948+13999C= NP_001371669.1:n.948+13999C=
NM_001384741.1:c.779-7206C= NP_001371670.1:n.779-7206C=
NM_001384742.1:c.779-666C= NP_001371671.1:n.779-666C=
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