Canonical Allele Identifier: CA505143195
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251354-T-A
MyVariant Identifiers: chr19:g.2251353T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251354T>A , CM000681.2:g.2251354T>A GRCh38
NC_000019.9:g.2251353T>A , CM000681.1:g.2251353T>A GRCh37
NC_000019.8:g.2202353T>A NCBI36
NG_012190.1:g.7241T>A
NG_032853.1:g.10070A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1080T>A MANE Select ENSP00000221496.2:p.Pro360=
ENST00000221496.4:c.1080T>A ENSP00000221496.2:p.Pro360=
ENST00000589313.2:n.1433T>A
NM_000479.3:c.1080T>A NP_000470.2:p.Pro360=
NM_000479.4:c.1080T>A NP_000470.2:p.Pro360=
NM_000479.5:c.1080T>A MANE Select NP_000470.3:p.Pro360=