Canonical Allele Identifier: CA403242752
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251588-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251588G>T , CM000681.2:g.2251588G>T GRCh38
NC_000019.9:g.2251587G>T , CM000681.1:g.2251587G>T GRCh37
NC_000019.8:g.2202587G>T NCBI36
NG_012190.1:g.7475G>T
NG_032853.1:g.9836C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1314G>T MANE Select ENSP00000221496.2:p.Trp438Cys
ENST00000221496.4:c.1314G>T ENSP00000221496.2:p.Trp438Cys
ENST00000589313.2:n.1667G>T
NM_000479.3:c.1314G>T NP_000470.2:p.Trp438Cys
NM_000479.4:c.1314G>T NP_000470.2:p.Trp438Cys
NM_000479.5:c.1314G>T MANE Select NP_000470.3:p.Trp438Cys