Canonical Allele Identifier: CA413309697

Gene: AMER1

Linked Data

• dbSNP Id: rs2147089840
• MyVariant Identifiers: chrX:g.63412411T>A (hg19) ; chrX:g.64192531T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64192531T>A , CM000685.2:g.64192531T>A	GRCh38
NC_000023.10:g.63412411T>A , CM000685.1:g.63412411T>A	GRCh37
NC_000023.9:g.63329136T>A	NCBI36
NG_021345.1:g.18214A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.756A>T MANE Select	ENSP00000364003.4:p.Lys252Asn
ENST00000330258.3:c.756A>T	ENSP00000329117.3:p.Lys252Asn
ENST00000374869.7:c.756A>T	ENSP00000364003.3:p.Lys252Asn
NM_152424.3:c.756A>T	NP_689637.3:p.Lys252Asn
XM_011530858.1:c.756A>T	XP_011529160.1:p.Lys252Asn
NM_152424.4:c.756A>T MANE Select	NP_689637.3:p.Lys252Asn