Canonical Allele Identifier: CA992599425
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025058231
gnomAD v3: 19-2251995-A-T
gnomAD v4: 19-2251995-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251995A>T , CM000681.2:g.2251995A>T GRCh38
NC_000019.9:g.2251994A>T , CM000681.1:g.2251994A>T GRCh37
NC_000019.8:g.2202994A>T NCBI36
NG_012190.1:g.7882A>T
NG_032853.1:g.9429T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*38A>T MANE Select ENSP00000221496.2:n.*38A>T
ENST00000221496.4:c.*38A>T ENSP00000221496.2:n.*38A>T
NM_000479.3:c.*38A>T NP_000470.2:n.*38A>T
NM_000479.4:c.*38A>T NP_000470.2:n.*38A>T
NM_000479.5:c.*38A>T MANE Select NP_000470.3:n.*38A>T