Canonical Allele Identifier: CA9063141
Gene: AMH HGNC NCBI

Linked Data

ClinVar Variation Id: 2038298
ClinVar RCV Id: RCV002890646
dbSNP Id: rs770189890
ExAC: 19:2251930 G / T
gnomAD v2: 19-2251930-G-T
gnomAD v3: 19-2251931-G-T
gnomAD v4: 19-2251931-G-T
MyVariant Identifiers: chr19:g.2251930G>T (hg19) chr19:g.2251931G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251931G>T , CM000681.2:g.2251931G>T GRCh38
NC_000019.9:g.2251930G>T , CM000681.1:g.2251930G>T GRCh37
NC_000019.8:g.2202930G>T NCBI36
NG_012190.1:g.7818G>T
NG_032853.1:g.9493C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1657G>T MANE Select ENSP00000221496.2:p.Val553Leu
ENST00000221496.4:c.1657G>T ENSP00000221496.2:p.Val553Leu
NM_000479.3:c.1657G>T NP_000470.2:p.Val553Leu
NM_000479.4:c.1657G>T NP_000470.2:p.Val553Leu
NM_000479.5:c.1657G>T MANE Select NP_000470.3:p.Val553Leu
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