Canonical Allele Identifier: CA505143031

Gene: AMH

Linked Data

• dbSNP Id: rs1403544387
• gnomAD v2: 19-2251854-G-A
• gnomAD v3: 19-2251855-G-A
• gnomAD v4: 19-2251855-G-A
• MyVariant Identifiers: chr19:g.2251854G>A (hg19) ; chr19:g.2251855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251855G>A , CM000681.2:g.2251855G>A	GRCh38
NC_000019.9:g.2251854G>A , CM000681.1:g.2251854G>A	GRCh37
NC_000019.8:g.2202854G>A	NCBI36
NG_012190.1:g.7742G>A
NG_032853.1:g.9569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1581G>A MANE Select	ENSP00000221496.2:p.Val527=
ENST00000221496.4:c.1581G>A	ENSP00000221496.2:p.Val527=
NM_000479.3:c.1581G>A	NP_000470.2:p.Val527=
NM_000479.4:c.1581G>A	NP_000470.2:p.Val527=
NM_000479.5:c.1581G>A MANE Select	NP_000470.3:p.Val527=