Canonical Allele Identifier: CA2318204245
Gene: AMH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251321G= , CM000681.2:g.2251321G= GRCh38
NC_000019.9:g.2251320G= , CM000681.1:g.2251320G= GRCh37
NC_000019.8:g.2202320G= NCBI36
NG_012190.1:g.7208G=
NG_032853.1:g.10103C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1047G= MANE Select ENSP00000221496.2:p.Leu349=
ENST00000221496.4:c.1047G= ENSP00000221496.2:p.Leu349=
ENST00000589313.2:n.1400G=
NM_000479.3:c.1047G= NP_000470.2:p.Leu349=
NM_000479.4:c.1047G= NP_000470.2:p.Leu349=
NM_000479.5:c.1047G= MANE Select NP_000470.3:p.Leu349=