Canonical Allele Identifier: CA9062708
Gene: AMH HGNC NCBI

Linked Data

ClinVar Variation Id: 381731
ClinVar RCV Id: RCV000439837 RCV003972605
dbSNP Id: rs149082963
ExAC: 19:2249366 T / G
gnomAD v2: 19-2249366-T-G
gnomAD v3: 19-2249367-T-G
gnomAD v4: 19-2249367-T-G
MyVariant Identifiers: chr19:g.2249366T>G (hg19) chr19:g.2249367T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2249367T>G , CM000681.2:g.2249367T>G GRCh38
NC_000019.9:g.2249366T>G , CM000681.1:g.2249366T>G GRCh37
NC_000019.8:g.2200366T>G NCBI36
NG_012190.1:g.5254T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.35T>G MANE Select ENSP00000221496.2:p.Val12Gly
ENST00000221496.4:c.35T>G ENSP00000221496.2:p.Val12Gly
ENST00000592877.1:n.59T>G
NM_000479.3:c.35T>G NP_000470.2:p.Val12Gly
NM_000479.4:c.35T>G NP_000470.2:p.Val12Gly
NM_000479.5:c.35T>G MANE Select NP_000470.3:p.Val12Gly
Search 100 bp 5'
Search 100 bp 3'