Canonical Allele Identifier: CA9063137
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs770263276
ExAC: 19:2251912 C / G
gnomAD v2: 19-2251912-C-G
gnomAD v3: 19-2251913-C-G
gnomAD v4: 19-2251913-C-G
MyVariant Identifiers: chr19:g.2251912C>G (hg19) chr19:g.2251913C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251913C>G , CM000681.2:g.2251913C>G GRCh38
NC_000019.9:g.2251912C>G , CM000681.1:g.2251912C>G GRCh37
NC_000019.8:g.2202912C>G NCBI36
NG_012190.1:g.7800C>G
NG_032853.1:g.9511G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1639C>G MANE Select ENSP00000221496.2:p.His547Asp
ENST00000221496.4:c.1639C>G ENSP00000221496.2:p.His547Asp
NM_000479.3:c.1639C>G NP_000470.2:p.His547Asp
NM_000479.4:c.1639C>G NP_000470.2:p.His547Asp
NM_000479.5:c.1639C>G MANE Select NP_000470.3:p.His547Asp
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