Canonical Allele Identifier: CA631305936
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs780333296
gnomAD v2: 19-2251990-C-T
gnomAD v4: 19-2251991-C-T
MyVariant Identifiers: chr19:g.2251990C>T (hg19) chr19:g.2251991C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251991C>T , CM000681.2:g.2251991C>T GRCh38
NC_000019.9:g.2251990C>T , CM000681.1:g.2251990C>T GRCh37
NC_000019.8:g.2202990C>T NCBI36
NG_012190.1:g.7878C>T
NG_032853.1:g.9433G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*34C>T MANE Select ENSP00000221496.2:n.*34C>T
ENST00000221496.4:c.*34C>T ENSP00000221496.2:n.*34C>T
NM_000479.3:c.*34C>T NP_000470.2:n.*34C>T
NM_000479.4:c.*34C>T NP_000470.2:n.*34C>T
NM_000479.5:c.*34C>T MANE Select NP_000470.3:n.*34C>T
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