Canonical Allele Identifier: CA9063099
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs764341243
ExAC: 19:2251795 G / C
gnomAD v2: 19-2251795-G-C
gnomAD v4: 19-2251796-G-C
MyVariant Identifiers: chr19:g.2251795G>C (hg19) chr19:g.2251796G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251796G>C , CM000681.2:g.2251796G>C GRCh38
NC_000019.9:g.2251795G>C , CM000681.1:g.2251795G>C GRCh37
NC_000019.8:g.2202795G>C NCBI36
NG_012190.1:g.7683G>C
NG_032853.1:g.9628C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1522G>C MANE Select ENSP00000221496.2:p.Val508Leu
ENST00000221496.4:c.1522G>C ENSP00000221496.2:p.Val508Leu
NM_000479.3:c.1522G>C NP_000470.2:p.Val508Leu
NM_000479.4:c.1522G>C NP_000470.2:p.Val508Leu
NM_000479.5:c.1522G>C MANE Select NP_000470.3:p.Val508Leu
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