Canonical Allele Identifier: CA403243061
Gene: AMH HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.2251685T>A (hg19) chr19:g.2251686T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251686T>A , CM000681.2:g.2251686T>A GRCh38
NC_000019.9:g.2251685T>A , CM000681.1:g.2251685T>A GRCh37
NC_000019.8:g.2202685T>A NCBI36
NG_012190.1:g.7573T>A
NG_032853.1:g.9738A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1412T>A MANE Select ENSP00000221496.2:p.Leu471His
ENST00000221496.4:c.1412T>A ENSP00000221496.2:p.Leu471His
NM_000479.3:c.1412T>A NP_000470.2:p.Leu471His
NM_000479.4:c.1412T>A NP_000470.2:p.Leu471His
NM_000479.5:c.1412T>A MANE Select NP_000470.3:p.Leu471His
Search 100 bp 5'
Search 100 bp 3'