Canonical Allele Identifier: CA9063106

Gene: AMH

Linked Data

• ClinVar Variation Id: 1174814
• ClinVar RCV Id: RCV001528928 ; RCV002070352
• dbSNP Id: rs10417628
• ExAC: 19:2251817 T / C
• gnomAD v2: 19-2251817-T-C
• gnomAD v3: 19-2251818-T-C
• gnomAD v4: 19-2251818-T-C
• MyVariant Identifiers: chr19:g.2251817T>C (hg19) ; chr19:g.2251818T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000221496.5:c.1544T>C MANE Select	ENSP00000221496.2:p.Val515Ala
ENST00000221496.4:c.1544T>C	ENSP00000221496.2:p.Val515Ala
NM_000479.5:c.1544T>C MANE Select	NP_000470.3:p.Val515Ala