Canonical Allele Identifier: CA517040916
Gene: AMER1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.63412201A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192321A>G , CM000685.2:g.64192321A>G GRCh38
NC_000023.10:g.63412201A>G , CM000685.1:g.63412201A>G GRCh37
NC_000023.9:g.63328926A>G NCBI36
NG_021345.1:g.18424T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.966T>C MANE Select ENSP00000364003.4:p.Phe322=
ENST00000330258.3:c.966T>C ENSP00000329117.3:p.Phe322=
ENST00000374869.7:c.966T>C ENSP00000364003.3:p.Phe322=
NM_152424.3:c.966T>C NP_689637.3:p.Phe322=
XM_011530858.1:c.966T>C XP_011529160.1:p.Phe322=
NM_152424.4:c.966T>C MANE Select NP_689637.3:p.Phe322=