Canonical Allele Identifier: CA403242207

Gene: AMH

Linked Data

• MyVariant Identifiers: chr19:g.2251421T>A (hg19) ; chr19:g.2251422T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251422T>A , CM000681.2:g.2251422T>A	GRCh38
NC_000019.9:g.2251421T>A , CM000681.1:g.2251421T>A	GRCh37
NC_000019.8:g.2202421T>A	NCBI36
NG_012190.1:g.7309T>A
NG_032853.1:g.10002A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1148T>A MANE Select	ENSP00000221496.2:p.Leu383Gln
ENST00000221496.4:c.1148T>A	ENSP00000221496.2:p.Leu383Gln
ENST00000589313.2:n.1501T>A
NM_000479.3:c.1148T>A	NP_000470.2:p.Leu383Gln
NM_000479.4:c.1148T>A	NP_000470.2:p.Leu383Gln
NM_000479.5:c.1148T>A MANE Select	NP_000470.3:p.Leu383Gln