Canonical Allele Identifier: CA413309648
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147089816
gnomAD v4: X-64192521-T-C
COSMIC: COSM4943187 COSM4943188
MyVariant Identifiers: chrX:g.63412401T>C (hg19) chrX:g.64192521T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192521T>C , CM000685.2:g.64192521T>C GRCh38
NC_000023.10:g.63412401T>C , CM000685.1:g.63412401T>C GRCh37
NC_000023.9:g.63329126T>C NCBI36
NG_021345.1:g.18224A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.766A>G MANE Select ENSP00000364003.4:p.Lys256Glu
ENST00000330258.3:c.766A>G ENSP00000329117.3:p.Lys256Glu
ENST00000374869.7:c.766A>G ENSP00000364003.3:p.Lys256Glu
NM_152424.3:c.766A>G NP_689637.3:p.Lys256Glu
XM_011530858.1:c.766A>G XP_011529160.1:p.Lys256Glu
NM_152424.4:c.766A>G MANE Select NP_689637.3:p.Lys256Glu
Search 100 bp 5'
Search 100 bp 3'