Canonical Allele Identifier: CA9063138
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs773737187
ExAC: 19:2251914 C / G
gnomAD v2: 19-2251914-C-G
gnomAD v4: 19-2251915-C-G
MyVariant Identifiers: chr19:g.2251914C>G (hg19) chr19:g.2251915C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251915C>G , CM000681.2:g.2251915C>G GRCh38
NC_000019.9:g.2251914C>G , CM000681.1:g.2251914C>G GRCh37
NC_000019.8:g.2202914C>G NCBI36
NG_012190.1:g.7802C>G
NG_032853.1:g.9509G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1641C>G MANE Select ENSP00000221496.2:p.His547Gln
ENST00000221496.4:c.1641C>G ENSP00000221496.2:p.His547Gln
NM_000479.3:c.1641C>G NP_000470.2:p.His547Gln
NM_000479.4:c.1641C>G NP_000470.2:p.His547Gln
NM_000479.5:c.1641C>G MANE Select NP_000470.3:p.His547Gln
Search 100 bp 5'
Search 100 bp 3'