Canonical Allele Identifier: CA403242243

Gene: AMH

Linked Data

• MyVariant Identifiers: chr19:g.2251433C>G (hg19) ; chr19:g.2251434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251434C>G , CM000681.2:g.2251434C>G	GRCh38
NC_000019.9:g.2251433C>G , CM000681.1:g.2251433C>G	GRCh37
NC_000019.8:g.2202433C>G	NCBI36
NG_012190.1:g.7321C>G
NG_032853.1:g.9990G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1160C>G MANE Select	ENSP00000221496.2:p.Ala387Gly
ENST00000221496.4:c.1160C>G	ENSP00000221496.2:p.Ala387Gly
ENST00000589313.2:n.1513C>G
NM_000479.3:c.1160C>G	NP_000470.2:p.Ala387Gly
NM_000479.4:c.1160C>G	NP_000470.2:p.Ala387Gly
NM_000479.5:c.1160C>G MANE Select	NP_000470.3:p.Ala387Gly