Canonical Allele Identifier: CA403243135
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251724-C-G
MyVariant Identifiers: chr19:g.2251723C>G (hg19) chr19:g.2251724C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251724C>G , CM000681.2:g.2251724C>G GRCh38
NC_000019.9:g.2251723C>G , CM000681.1:g.2251723C>G GRCh37
NC_000019.8:g.2202723C>G NCBI36
NG_012190.1:g.7611C>G
NG_032853.1:g.9700G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000221496.5:c.1450C>G MANE Select ENSP00000221496.2:p.Gln484Glu
ENST00000221496.4:c.1450C>G ENSP00000221496.2:p.Gln484Glu
NM_000479.3:c.1450C>G NP_000470.2:p.Gln484Glu
NM_000479.4:c.1450C>G NP_000470.2:p.Gln484Glu
NM_000479.5:c.1450C>G MANE Select NP_000470.3:p.Gln484Glu
Search 100 bp 5'
Search 100 bp 3'