Canonical Allele Identifier: CA992599421
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025058195
gnomAD v3: 19-2251994-G-C
gnomAD v4: 19-2251994-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251994G>C , CM000681.2:g.2251994G>C GRCh38
NC_000019.9:g.2251993G>C , CM000681.1:g.2251993G>C GRCh37
NC_000019.8:g.2202993G>C NCBI36
NG_012190.1:g.7881G>C
NG_032853.1:g.9430C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*37G>C MANE Select ENSP00000221496.2:n.*37G>C
ENST00000221496.4:c.*37G>C ENSP00000221496.2:n.*37G>C
NM_000479.3:c.*37G>C NP_000470.2:n.*37G>C
NM_000479.4:c.*37G>C NP_000470.2:n.*37G>C
NM_000479.5:c.*37G>C MANE Select NP_000470.3:n.*37G>C
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