Canonical Allele Identifier: CA403242844
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251617-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251617G>T , CM000681.2:g.2251617G>T GRCh38
NC_000019.9:g.2251616G>T , CM000681.1:g.2251616G>T GRCh37
NC_000019.8:g.2202616G>T NCBI36
NG_012190.1:g.7504G>T
NG_032853.1:g.9807C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1343G>T MANE Select ENSP00000221496.2:p.Arg448Leu
ENST00000221496.4:c.1343G>T ENSP00000221496.2:p.Arg448Leu
NM_000479.3:c.1343G>T NP_000470.2:p.Arg448Leu
NM_000479.4:c.1343G>T NP_000470.2:p.Arg448Leu
NM_000479.5:c.1343G>T MANE Select NP_000470.3:p.Arg448Leu