Canonical Allele Identifier: CA9063136
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs748647281
ExAC: 19:2251910 C / A
gnomAD v2: 19-2251910-C-A
gnomAD v4: 19-2251911-C-A
MyVariant Identifiers: chr19:g.2251910C>A (hg19) chr19:g.2251911C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251911C>A , CM000681.2:g.2251911C>A GRCh38
NC_000019.9:g.2251910C>A , CM000681.1:g.2251910C>A GRCh37
NC_000019.8:g.2202910C>A NCBI36
NG_012190.1:g.7798C>A
NG_032853.1:g.9513G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1637C>A MANE Select ENSP00000221496.2:p.Ala546Glu
ENST00000221496.4:c.1637C>A ENSP00000221496.2:p.Ala546Glu
NM_000479.3:c.1637C>A NP_000470.2:p.Ala546Glu
NM_000479.4:c.1637C>A NP_000470.2:p.Ala546Glu
NM_000479.5:c.1637C>A MANE Select NP_000470.3:p.Ala546Glu
Search 100 bp 5'
Search 100 bp 3'