Canonical Allele Identifier: CA505143783

Gene: AMH

Linked Data

• gnomAD v4: 19-2251558-G-T
• MyVariant Identifiers: chr19:g.2251557G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251558G>T , CM000681.2:g.2251558G>T	GRCh38
NC_000019.9:g.2251557G>T , CM000681.1:g.2251557G>T	GRCh37
NC_000019.8:g.2202557G>T	NCBI36
NG_012190.1:g.7445G>T
NG_032853.1:g.9866C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1284G>T MANE Select	ENSP00000221496.2:p.Leu428=
ENST00000221496.4:c.1284G>T	ENSP00000221496.2:p.Leu428=
ENST00000589313.2:n.1637G>T
NM_000479.3:c.1284G>T	NP_000470.2:p.Leu428=
NM_000479.4:c.1284G>T	NP_000470.2:p.Leu428=
NM_000479.5:c.1284G>T MANE Select	NP_000470.3:p.Leu428=