Canonical Allele Identifier: CA403243120

Gene: AMH

Linked Data

• MyVariant Identifiers: chr19:g.2251716G>C (hg19) ; chr19:g.2251717G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251717G>C , CM000681.2:g.2251717G>C	GRCh38
NC_000019.9:g.2251716G>C , CM000681.1:g.2251716G>C	GRCh37
NC_000019.8:g.2202716G>C	NCBI36
NG_012190.1:g.7604G>C
NG_032853.1:g.9707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1443G>C MANE Select	ENSP00000221496.2:p.Glu481Asp
ENST00000221496.4:c.1443G>C	ENSP00000221496.2:p.Glu481Asp
NM_000479.3:c.1443G>C	NP_000470.2:p.Glu481Asp
NM_000479.4:c.1443G>C	NP_000470.2:p.Glu481Asp
NM_000479.5:c.1443G>C MANE Select	NP_000470.3:p.Glu481Asp