Canonical Allele Identifier: CA505143986
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1242359842
MyVariant Identifiers: chr19:g.2251818C>A (hg19) chr19:g.2251819C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251819C>A , CM000681.2:g.2251819C>A GRCh38
NC_000019.9:g.2251818C>A , CM000681.1:g.2251818C>A GRCh37
NC_000019.8:g.2202818C>A NCBI36
NG_012190.1:g.7706C>A
NG_032853.1:g.9605G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000221496.5:c.1545C>A MANE Select ENSP00000221496.2:p.Val515=
ENST00000221496.4:c.1545C>A ENSP00000221496.2:p.Val515=
NM_000479.3:c.1545C>A NP_000470.2:p.Ala515=
NM_000479.4:c.1545C>A NP_000470.2:p.Ala515=
NM_000479.5:c.1545C>A MANE Select NP_000470.3:p.Val515=
Search 100 bp 5'
Search 100 bp 3'