Canonical Allele Identifier: CA403243153
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1389433397
gnomAD v4: 19-2251731-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251731A>C , CM000681.2:g.2251731A>C GRCh38
NC_000019.9:g.2251730A>C , CM000681.1:g.2251730A>C GRCh37
NC_000019.8:g.2202730A>C NCBI36
NG_012190.1:g.7618A>C
NG_032853.1:g.9693T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1457A>C MANE Select ENSP00000221496.2:p.Asn486Thr
ENST00000221496.4:c.1457A>C ENSP00000221496.2:p.Asn486Thr
NM_000479.3:c.1457A>C NP_000470.2:p.Asn486Thr
NM_000479.4:c.1457A>C NP_000470.2:p.Asn486Thr
NM_000479.5:c.1457A>C MANE Select NP_000470.3:p.Asn486Thr