Canonical Allele Identifier: CA517040866
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs1930257560
MyVariant Identifiers: chrX:g.63411889A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192009A>G , CM000685.2:g.64192009A>G GRCh38
NC_000023.10:g.63411889A>G , CM000685.1:g.63411889A>G GRCh37
NC_000023.9:g.63328614A>G NCBI36
NG_021345.1:g.18736T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1278T>C MANE Select ENSP00000364003.4:p.His426=
ENST00000330258.3:c.1278T>C ENSP00000329117.3:p.His426=
ENST00000374869.7:c.1278T>C ENSP00000364003.3:p.His426=
NM_152424.3:c.1278T>C NP_689637.3:p.His426=
XM_011530858.1:c.1278T>C XP_011529160.1:p.His426=
NM_152424.4:c.1278T>C MANE Select NP_689637.3:p.His426=
Search 100 bp 5'
Search 100 bp 3'