Canonical Allele Identifier: CA403242172
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251406-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251406C>A , CM000681.2:g.2251406C>A GRCh38
NC_000019.9:g.2251405C>A , CM000681.1:g.2251405C>A GRCh37
NC_000019.8:g.2202405C>A NCBI36
NG_012190.1:g.7293C>A
NG_032853.1:g.10018G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1132C>A MANE Select ENSP00000221496.2:p.Arg378Ser
ENST00000221496.4:c.1132C>A ENSP00000221496.2:p.Arg378Ser
ENST00000589313.2:n.1485C>A
NM_000479.3:c.1132C>A NP_000470.2:p.Arg378Ser
NM_000479.4:c.1132C>A NP_000470.2:p.Arg378Ser
NM_000479.5:c.1132C>A MANE Select NP_000470.3:p.Arg378Ser