Canonical Allele Identifier: CA631305927
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1411154773
gnomAD v2: 19-2251961-T-C
gnomAD v4: 19-2251962-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251962T>C , CM000681.2:g.2251962T>C GRCh38
NC_000019.9:g.2251961T>C , CM000681.1:g.2251961T>C GRCh37
NC_000019.8:g.2202961T>C NCBI36
NG_012190.1:g.7849T>C
NG_032853.1:g.9462A>G

Transcript Alleles

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