Canonical Allele Identifier: CA9063143

Gene: AMH

Linked Data

• dbSNP Id: rs748364470
• ExAC: 19:2251933 G / GC
• gnomAD v2: 19-2251933-G-GC
• gnomAD v4: 19-2251934-G-GC
• MyVariant Identifiers: chr19:g.2251933_2251934insC (hg19) ; chr19:g.2251934_2251935insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251936dup , CM000681.2:g.2251936dup	GRCh38
NC_000019.9:g.2251935dup , CM000681.1:g.2251935dup	GRCh37
NC_000019.8:g.2202935dup	NCBI36
NG_012190.1:g.7823dup
NG_032853.1:g.9489dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1662dup MANE Select	ENSP00000221496.2:p.Thr555HisfsTer?
ENST00000221496.4:c.1662dup	ENSP00000221496.2:p.Thr555HisfsTer?
NM_000479.3:c.1662dup	NP_000470.2:p.Thr555HisfsTer?
NM_000479.4:c.1662dup	NP_000470.2:p.Thr555HisfsTer?
NM_000479.5:c.1662dup MANE Select	NP_000470.3:p.Thr555HisfsTer?