Canonical Allele Identifier: CA9062748

Gene: AMH

Linked Data

• ClinVar Variation Id: 518296
• ClinVar RCV Id: RCV000609747 ; RCV002066914
• dbSNP Id: rs10407022
• ExAC: 19:2249477 G / T
• gnomAD v2: 19-2249477-G-T
• gnomAD v3: 19-2249478-G-T
• gnomAD v4: 19-2249478-G-T
• MyVariant Identifiers: chr19:g.2249477G>T (hg19) ; chr19:g.2249478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2249478G>T , CM000681.2:g.2249478G>T	GRCh38
NC_000019.9:g.2249477G>T , CM000681.1:g.2249477G>T	GRCh37
NC_000019.8:g.2200477G>T	NCBI36
NG_012190.1:g.5365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.146G>T MANE Select	ENSP00000221496.2:p.Ser49Ile
ENST00000221496.4:c.146G>T	ENSP00000221496.2:p.Ser49Ile
ENST00000592877.1:n.170G>T
NM_000479.3:c.146G>T	NP_000470.2:p.Ser49Ile
NM_000479.4:c.146G>T	NP_000470.2:p.Ser49Ile
NM_000479.5:c.146G>T MANE Select	NP_000470.3:p.Ser49Ile