Canonical Allele Identifier: CA403243440

Gene: AMH

Linked Data

• dbSNP Id: rs10417628
• gnomAD v4: 19-2251818-T-A
• MyVariant Identifiers: chr19:g.2251817T>A (hg19) ; chr19:g.2251818T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251818T>A , CM000681.2:g.2251818T>A	GRCh38
NC_000019.9:g.2251817T>A , CM000681.1:g.2251817T>A	GRCh37
NC_000019.8:g.2202817T>A	NCBI36
NG_032853.1:g.9606A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1544T>A MANE Select	ENSP00000221496.2:p.Val515Asp
ENST00000221496.4:c.1544T>A	ENSP00000221496.2:p.Val515Asp
NM_000479.5:c.1544T>A MANE Select	NP_000470.3:p.Val515Asp