Canonical Allele Identifier: CA403243444

Gene: AMH

Linked Data

• dbSNP Id: rs2025052784
• MyVariant Identifiers: chr19:g.2251819C>T (hg19) ; chr19:g.2251820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251820C>T , CM000681.2:g.2251820C>T	GRCh38
NC_000019.9:g.2251819C>T , CM000681.1:g.2251819C>T	GRCh37
NC_000019.8:g.2202819C>T	NCBI36
NG_012190.1:g.7707C>T
NG_032853.1:g.9604G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000221496.5:c.1546C>T MANE Select	ENSP00000221496.2:p.Arg516Cys
ENST00000221496.4:c.1546C>T	ENSP00000221496.2:p.Arg516Cys
NM_000479.3:c.1546C>T	NP_000470.2:p.Arg516Cys
NM_000479.4:c.1546C>T	NP_000470.2:p.Arg516Cys
NM_000479.5:c.1546C>T MANE Select	NP_000470.3:p.Arg516Cys