Canonical Allele Identifier: CA304214457
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs954011347
gnomAD v2: 19-2251951-C-G
gnomAD v3: 19-2251952-C-G
gnomAD v4: 19-2251952-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251952C>G , CM000681.2:g.2251952C>G GRCh38
NC_000019.9:g.2251951C>G , CM000681.1:g.2251951C>G GRCh37
NC_000019.8:g.2202951C>G NCBI36
NG_012190.1:g.7839C>G
NG_032853.1:g.9472G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1678C>G MANE Select ENSP00000221496.2:p.Arg560Gly
ENST00000221496.4:c.1678C>G ENSP00000221496.2:p.Arg560Gly
NM_000479.3:c.1678C>G NP_000470.2:p.Arg560Gly
NM_000479.4:c.1678C>G NP_000470.2:p.Arg560Gly
NM_000479.5:c.1678C>G MANE Select NP_000470.3:p.Arg560Gly