Canonical Allele Identifier: CA413308760

Gene: AMER1

Linked Data

• dbSNP Id: rs1930266956
• MyVariant Identifiers: chrX:g.63412184C>T (hg19) ; chrX:g.64192304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64192304C>T , CM000685.2:g.64192304C>T	GRCh38
NC_000023.10:g.63412184C>T , CM000685.1:g.63412184C>T	GRCh37
NC_000023.9:g.63328909C>T	NCBI36
NG_021345.1:g.18441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.983G>A MANE Select	ENSP00000364003.4:p.Cys328Tyr
ENST00000330258.3:c.983G>A	ENSP00000329117.3:p.Cys328Tyr
ENST00000374869.7:c.983G>A	ENSP00000364003.3:p.Cys328Tyr
NM_152424.3:c.983G>A	NP_689637.3:p.Cys328Tyr
XM_011530858.1:c.983G>A	XP_011529160.1:p.Cys328Tyr
NM_152424.4:c.983G>A MANE Select	NP_689637.3:p.Cys328Tyr