Canonical Allele Identifier: CA403243547
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1389905863
gnomAD v2: 19-2251852-G-T
gnomAD v4: 19-2251853-G-T
MyVariant Identifiers: chr19:g.2251852G>T (hg19) chr19:g.2251853G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251853G>T , CM000681.2:g.2251853G>T GRCh38
NC_000019.9:g.2251852G>T , CM000681.1:g.2251852G>T GRCh37
NC_000019.8:g.2202852G>T NCBI36
NG_012190.1:g.7740G>T
NG_032853.1:g.9571C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1579G>T MANE Select ENSP00000221496.2:p.Val527Leu
ENST00000221496.4:c.1579G>T ENSP00000221496.2:p.Val527Leu
NM_000479.3:c.1579G>T NP_000470.2:p.Val527Leu
NM_000479.4:c.1579G>T NP_000470.2:p.Val527Leu
NM_000479.5:c.1579G>T MANE Select NP_000470.3:p.Val527Leu
Search 100 bp 5'
Search 100 bp 3'