Canonical Allele Identifier: CA413308005

Gene: AMER1

Linked Data

• MyVariant Identifiers: chrX:g.63411852G>T (hg19) ; chrX:g.64191972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64191972G>T , CM000685.2:g.64191972G>T	GRCh38
NC_000023.10:g.63411852G>T , CM000685.1:g.63411852G>T	GRCh37
NC_000023.9:g.63328577G>T	NCBI36
NG_021345.1:g.18773C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.1315C>A MANE Select	ENSP00000364003.4:p.Leu439Ile
ENST00000330258.3:c.1315C>A	ENSP00000329117.3:p.Leu439Ile
ENST00000374869.7:c.1315C>A	ENSP00000364003.3:p.Leu439Ile
NM_152424.3:c.1315C>A	NP_689637.3:p.Leu439Ile
XM_011530858.1:c.1315C>A	XP_011529160.1:p.Leu439Ile
NM_152424.4:c.1315C>A MANE Select	NP_689637.3:p.Leu439Ile