Canonical Allele Identifier: CA914291184
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1568395357
gnomAD v2: 19-2251981-C-T
gnomAD v3: 19-2251982-C-T
gnomAD v4: 19-2251982-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251982C>T , CM000681.2:g.2251982C>T GRCh38
NC_000019.9:g.2251981C>T , CM000681.1:g.2251981C>T GRCh37
NC_000019.8:g.2202981C>T NCBI36
NG_012190.1:g.7869C>T
NG_032853.1:g.9442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*25C>T MANE Select ENSP00000221496.2:n.*25C>T
ENST00000221496.4:c.*25C>T ENSP00000221496.2:n.*25C>T
NM_000479.3:c.*25C>T NP_000470.2:n.*25C>T
NM_000479.4:c.*25C>T NP_000470.2:n.*25C>T
NM_000479.5:c.*25C>T MANE Select NP_000470.3:n.*25C>T
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