Canonical Allele Identifier: CA403242011

Gene: AMH

Linked Data

• MyVariant Identifiers: chr19:g.2251321C>G (hg19) ; chr19:g.2251322C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251322C>G , CM000681.2:g.2251322C>G	GRCh38
NC_000019.9:g.2251321C>G , CM000681.1:g.2251321C>G	GRCh37
NC_000019.8:g.2202321C>G	NCBI36
NG_012190.1:g.7209C>G
NG_032853.1:g.10102G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1048C>G MANE Select	ENSP00000221496.2:p.Leu350Val
ENST00000221496.4:c.1048C>G	ENSP00000221496.2:p.Leu350Val
ENST00000589313.2:n.1401C>G
NM_000479.3:c.1048C>G	NP_000470.2:p.Leu350Val
NM_000479.4:c.1048C>G	NP_000470.2:p.Leu350Val
NM_000479.5:c.1048C>G MANE Select	NP_000470.3:p.Leu350Val