Canonical Allele Identifier: CA2583853186
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251611-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251614del , CM000681.2:g.2251614del GRCh38
NC_000019.9:g.2251613del , CM000681.1:g.2251613del GRCh37
NC_000019.8:g.2202613del NCBI36
NG_012190.1:g.7501del
NG_032853.1:g.9812del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1340del MANE Select ENSP00000221496.2:p.Gly447ValfsTer23
ENST00000221496.4:c.1340del ENSP00000221496.2:p.Gly447ValfsTer23
NM_000479.3:c.1340del NP_000470.2:p.Gly447ValfsTer23
NM_000479.4:c.1340del NP_000470.2:p.Gly447ValfsTer23
NM_000479.5:c.1340del MANE Select NP_000470.3:p.Gly447ValfsTer23
Search 100 bp 5'
Search 100 bp 3'