Canonical Allele Identifier: CA413308494
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147089046
COSMIC: COSM1284807 COSM1284808
MyVariant Identifiers: chrX:g.63412064C>T (hg19) chrX:g.64192184C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192184C>T , CM000685.2:g.64192184C>T GRCh38
NC_000023.10:g.63412064C>T , CM000685.1:g.63412064C>T GRCh37
NC_000023.9:g.63328789C>T NCBI36
NG_021345.1:g.18561G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1103G>A MANE Select ENSP00000364003.4:p.Gly368Asp
ENST00000330258.3:c.1103G>A ENSP00000329117.3:p.Gly368Asp
ENST00000374869.7:c.1103G>A ENSP00000364003.3:p.Gly368Asp
NM_152424.3:c.1103G>A NP_689637.3:p.Gly368Asp
XM_011530858.1:c.1103G>A XP_011529160.1:p.Gly368Asp
NM_152424.4:c.1103G>A MANE Select NP_689637.3:p.Gly368Asp
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