Canonical Allele Identifier: CA992599395
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025057993
gnomAD v3: 19-2251988-G-A
gnomAD v4: 19-2251988-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251988G>A , CM000681.2:g.2251988G>A GRCh38
NC_000019.9:g.2251987G>A , CM000681.1:g.2251987G>A GRCh37
NC_000019.8:g.2202987G>A NCBI36
NG_012190.1:g.7875G>A
NG_032853.1:g.9436C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*31G>A MANE Select ENSP00000221496.2:n.*31G>A
ENST00000221496.4:c.*31G>A ENSP00000221496.2:n.*31G>A
NM_000479.3:c.*31G>A NP_000470.2:n.*31G>A
NM_000479.4:c.*31G>A NP_000470.2:n.*31G>A
NM_000479.5:c.*31G>A MANE Select NP_000470.3:n.*31G>A
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