Canonical Allele Identifier: CA413308436
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs768260912
MyVariant Identifiers: chrX:g.63412038C>G (hg19) chrX:g.64192158C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192158C>G , CM000685.2:g.64192158C>G GRCh38
NC_000023.10:g.63412038C>G , CM000685.1:g.63412038C>G GRCh37
NC_000023.9:g.63328763C>G NCBI36
NG_021345.1:g.18587G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1129G>C MANE Select ENSP00000364003.4:p.Asp377His
ENST00000330258.3:c.1129G>C ENSP00000329117.3:p.Asp377His
ENST00000374869.7:c.1129G>C ENSP00000364003.3:p.Asp377His
NM_152424.3:c.1129G>C NP_689637.3:p.Asp377His
XM_011530858.1:c.1129G>C XP_011529160.1:p.Asp377His
NM_152424.4:c.1129G>C MANE Select NP_689637.3:p.Asp377His
Search 100 bp 5'
Search 100 bp 3'