Canonical Allele Identifier: CA403243797
Gene: AMH HGNC NCBI

Linked Data

gnomAD v2: 19-2251927-A-G
gnomAD v4: 19-2251928-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251928A>G , CM000681.2:g.2251928A>G GRCh38
NC_000019.9:g.2251927A>G , CM000681.1:g.2251927A>G GRCh37
NC_000019.8:g.2202927A>G NCBI36
NG_012190.1:g.7815A>G
NG_032853.1:g.9496T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1654A>G MANE Select ENSP00000221496.2:p.Met552Val
ENST00000221496.4:c.1654A>G ENSP00000221496.2:p.Met552Val
NM_000479.3:c.1654A>G NP_000470.2:p.Met552Val
NM_000479.4:c.1654A>G NP_000470.2:p.Met552Val
NM_000479.5:c.1654A>G MANE Select NP_000470.3:p.Met552Val