Canonical Allele Identifier: CA631305928
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs750247506
gnomAD v2: 19-2251967-G-C
gnomAD v3: 19-2251968-G-C
gnomAD v4: 19-2251968-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251968G>C , CM000681.2:g.2251968G>C GRCh38
NC_000019.9:g.2251967G>C , CM000681.1:g.2251967G>C GRCh37
NC_000019.8:g.2202967G>C NCBI36
NG_012190.1:g.7855G>C
NG_032853.1:g.9456C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*11G>C MANE Select ENSP00000221496.2:n.*11G>C
ENST00000221496.4:c.*11G>C ENSP00000221496.2:n.*11G>C
NM_000479.3:c.*11G>C NP_000470.2:n.*11G>C
NM_000479.4:c.*11G>C NP_000470.2:n.*11G>C
NM_000479.5:c.*11G>C MANE Select NP_000470.3:n.*11G>C