Canonical Allele Identifier: CA304214245
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs868632564
gnomAD v3: 19-2251770-G-A
gnomAD v4: 19-2251770-G-A
MyVariant Identifiers: chr19:g.2251769G>A (hg19) chr19:g.2251770G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251770G>A , CM000681.2:g.2251770G>A GRCh38
NC_000019.9:g.2251769G>A , CM000681.1:g.2251769G>A GRCh37
NC_000019.8:g.2202769G>A NCBI36
NG_012190.1:g.7657G>A
NG_032853.1:g.9654C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1496G>A MANE Select ENSP00000221496.2:p.Arg499His
ENST00000221496.4:c.1496G>A ENSP00000221496.2:p.Arg499His
NM_000479.3:c.1496G>A NP_000470.2:p.Arg499His
NM_000479.4:c.1496G>A NP_000470.2:p.Arg499His
NM_000479.5:c.1496G>A MANE Select NP_000470.3:p.Arg499His
Search 100 bp 5'
Search 100 bp 3'