Canonical Allele Identifier: CA403243811
Gene: AMH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251931G>C , CM000681.2:g.2251931G>C GRCh38
NC_000019.9:g.2251930G>C , CM000681.1:g.2251930G>C GRCh37
NC_000019.8:g.2202930G>C NCBI36
NG_012190.1:g.7818G>C
NG_032853.1:g.9493C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1657G>C MANE Select ENSP00000221496.2:p.Val553Leu
ENST00000221496.4:c.1657G>C ENSP00000221496.2:p.Val553Leu
NM_000479.3:c.1657G>C NP_000470.2:p.Val553Leu
NM_000479.4:c.1657G>C NP_000470.2:p.Val553Leu
NM_000479.5:c.1657G>C MANE Select NP_000470.3:p.Val553Leu