Canonical Allele Identifier: CA2713698070
Gene: AMZ1 HGNC NCBI

Linked Data

dbSNP Id: rs2115250079
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2723481A>T , CM000669.2:g.2723481A>T GRCh38
NC_000007.13:g.2763115A>T , CM000669.1:g.2763115A>T GRCh37
NC_000007.12:g.2729641A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000489665.1:n.550+13665A>T
XM_011515151.1:c.778+13665A>T XP_011513453.1:n.778+13665A>T
NM_001321766.1:c.948+13665A>T NP_001308695.1:n.948+13665A>T
XM_011515151.3:c.778+13665A>T XP_011513453.1:n.778+13665A>T
XM_017011774.2:c.778+13665A>T XP_016867263.1:n.778+13665A>T
NM_001321766.2:c.948+13665A>T NP_001308695.1:n.948+13665A>T
NM_001384740.1:c.948+13665A>T NP_001371669.1:n.948+13665A>T
NM_001384741.1:c.779-7540A>T NP_001371670.1:n.779-7540A>T
NM_001384742.1:c.779-1000A>T NP_001371671.1:n.779-1000A>T
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