Canonical Allele Identifier: CA403243446
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025052784
gnomAD v3: 19-2251820-C-A
gnomAD v4: 19-2251820-C-A
MyVariant Identifiers: chr19:g.2251819C>A (hg19) chr19:g.2251820C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251820C>A , CM000681.2:g.2251820C>A GRCh38
NC_000019.9:g.2251819C>A , CM000681.1:g.2251819C>A GRCh37
NC_000019.8:g.2202819C>A NCBI36
NG_012190.1:g.7707C>A
NG_032853.1:g.9604G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000221496.5:c.1546C>A MANE Select ENSP00000221496.2:p.Arg516Ser
ENST00000221496.4:c.1546C>A ENSP00000221496.2:p.Arg516Ser
NM_000479.3:c.1546C>A NP_000470.2:p.Arg516Ser
NM_000479.4:c.1546C>A NP_000470.2:p.Arg516Ser
NM_000479.5:c.1546C>A MANE Select NP_000470.3:p.Arg516Ser
Search 100 bp 5'
Search 100 bp 3'