Canonical Allele Identifier: CA505143070
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251906-C-A
MyVariant Identifiers: chr19:g.2251905C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251906C>A , CM000681.2:g.2251906C>A GRCh38
NC_000019.9:g.2251905C>A , CM000681.1:g.2251905C>A GRCh37
NC_000019.8:g.2202905C>A NCBI36
NG_012190.1:g.7793C>A
NG_032853.1:g.9518G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1632C>A MANE Select ENSP00000221496.2:p.Ile544=
ENST00000221496.4:c.1632C>A ENSP00000221496.2:p.Ile544=
NM_000479.3:c.1632C>A NP_000470.2:p.Ile544=
NM_000479.4:c.1632C>A NP_000470.2:p.Ile544=
NM_000479.5:c.1632C>A MANE Select NP_000470.3:p.Ile544=