Canonical Allele Identifier: CA505143012

Gene: AMH

Linked Data

• COSMIC: COSM5550079
• MyVariant Identifiers: chr19:g.2251827C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251828C>T , CM000681.2:g.2251828C>T	GRCh38
NC_000019.9:g.2251827C>T , CM000681.1:g.2251827C>T	GRCh37
NC_000019.8:g.2202827C>T	NCBI36
NG_012190.1:g.7715C>T
NG_032853.1:g.9596G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000221496.5:c.1554C>T MANE Select	ENSP00000221496.2:p.Ala518=
ENST00000221496.4:c.1554C>T	ENSP00000221496.2:p.Ala518=
NM_000479.3:c.1554C>T	NP_000470.2:p.Ala518=
NM_000479.4:c.1554C>T	NP_000470.2:p.Ala518=
NM_000479.5:c.1554C>T MANE Select	NP_000470.3:p.Ala518=