Canonical Allele Identifier: CA403242280
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251443-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251443T>C , CM000681.2:g.2251443T>C GRCh38
NC_000019.9:g.2251442T>C , CM000681.1:g.2251442T>C GRCh37
NC_000019.8:g.2202442T>C NCBI36
NG_012190.1:g.7330T>C
NG_032853.1:g.9981A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1169T>C MANE Select ENSP00000221496.2:p.Leu390Pro
ENST00000221496.4:c.1169T>C ENSP00000221496.2:p.Leu390Pro
ENST00000589313.2:n.1522T>C
NM_000479.3:c.1169T>C NP_000470.2:p.Leu390Pro
NM_000479.4:c.1169T>C NP_000470.2:p.Leu390Pro
NM_000479.5:c.1169T>C MANE Select NP_000470.3:p.Leu390Pro