Canonical Allele Identifier: CA403242145
Gene: AMH HGNC NCBI

Linked Data

ClinVar Variation Id: 2232225
ClinVar RCV Id: RCV002727933
MyVariant Identifiers: chr19:g.2251390A>C (hg19) chr19:g.2251391A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251391A>C , CM000681.2:g.2251391A>C GRCh38
NC_000019.9:g.2251390A>C , CM000681.1:g.2251390A>C GRCh37
NC_000019.8:g.2202390A>C NCBI36
NG_012190.1:g.7278A>C
NG_032853.1:g.10033T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1117A>C MANE Select ENSP00000221496.2:p.Thr373Pro
ENST00000221496.4:c.1117A>C ENSP00000221496.2:p.Thr373Pro
ENST00000589313.2:n.1470A>C
NM_000479.3:c.1117A>C NP_000470.2:p.Thr373Pro
NM_000479.4:c.1117A>C NP_000470.2:p.Thr373Pro
NM_000479.5:c.1117A>C MANE Select NP_000470.3:p.Thr373Pro
Search 100 bp 5'
Search 100 bp 3'