Canonical Allele Identifier: CA517040919
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147088796
MyVariant Identifiers: chrX:g.63411931A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192051A>T , CM000685.2:g.64192051A>T GRCh38
NC_000023.10:g.63411931A>T , CM000685.1:g.63411931A>T GRCh37
NC_000023.9:g.63328656A>T NCBI36
NG_021345.1:g.18694T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1236T>A MANE Select ENSP00000364003.4:p.Thr412=
ENST00000330258.3:c.1236T>A ENSP00000329117.3:p.Thr412=
ENST00000374869.7:c.1236T>A ENSP00000364003.3:p.Thr412=
NM_152424.3:c.1236T>A NP_689637.3:p.Thr412=
XM_011530858.1:c.1236T>A XP_011529160.1:p.Thr412=
NM_152424.4:c.1236T>A MANE Select NP_689637.3:p.Thr412=