Canonical Allele Identifier: CA9063083
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs768759070
ExAC: 19:2251727 CCAA / C
gnomAD v2: 19-2251727-CCAA-C
gnomAD v4: 19-2251728-CCAA-C
MyVariant Identifiers: chr19:g.2251728_2251730del (hg19) chr19:g.2251729_2251731del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251732_2251734del , CM000681.2:g.2251732_2251734del GRCh38
NC_000019.9:g.2251731_2251733del , CM000681.1:g.2251731_2251733del GRCh37
NC_000019.8:g.2202731_2202733del NCBI36
NG_012190.1:g.7619_7621del
NG_032853.1:g.9693_9695del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1458_1460del MANE Select ENSP00000221496.2:p.Asn487del
ENST00000221496.4:c.1458_1460del ENSP00000221496.2:p.Asn487del
NM_000479.3:c.1458_1460del NP_000470.2:p.Asn487del
NM_000479.4:c.1458_1460del NP_000470.2:p.Asn487del
NM_000479.5:c.1458_1460del MANE Select NP_000470.3:p.Asn487del
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