Canonical Allele Identifier: CA413308550
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs1235327141
MyVariant Identifiers: chrX:g.63412091C>T (hg19) chrX:g.64192211C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192211C>T , CM000685.2:g.64192211C>T GRCh38
NC_000023.10:g.63412091C>T , CM000685.1:g.63412091C>T GRCh37
NC_000023.9:g.63328816C>T NCBI36
NG_021345.1:g.18534G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1076G>A MANE Select ENSP00000364003.4:p.Ser359Asn
ENST00000330258.3:c.1076G>A ENSP00000329117.3:p.Ser359Asn
ENST00000374869.7:c.1076G>A ENSP00000364003.3:p.Ser359Asn
NM_152424.3:c.1076G>A NP_689637.3:p.Ser359Asn
XM_011530858.1:c.1076G>A XP_011529160.1:p.Ser359Asn
NM_152424.4:c.1076G>A MANE Select NP_689637.3:p.Ser359Asn
Search 100 bp 5'
Search 100 bp 3'