Canonical Allele Identifier: CA403243714
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251907-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251907A>C , CM000681.2:g.2251907A>C GRCh38
NC_000019.9:g.2251906A>C , CM000681.1:g.2251906A>C GRCh37
NC_000019.8:g.2202906A>C NCBI36
NG_012190.1:g.7794A>C
NG_032853.1:g.9517T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1633A>C MANE Select ENSP00000221496.2:p.Ser545Arg
ENST00000221496.4:c.1633A>C ENSP00000221496.2:p.Ser545Arg
NM_000479.3:c.1633A>C NP_000470.2:p.Ser545Arg
NM_000479.4:c.1633A>C NP_000470.2:p.Ser545Arg
NM_000479.5:c.1633A>C MANE Select NP_000470.3:p.Ser545Arg