Canonical Allele Identifier: CA413309554
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs1930273124
gnomAD v4: X-64192502-A-G
COSMIC: COSM1468873 COSM1468874
MyVariant Identifiers: chrX:g.63412382A>G (hg19) chrX:g.64192502A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192502A>G , CM000685.2:g.64192502A>G GRCh38
NC_000023.10:g.63412382A>G , CM000685.1:g.63412382A>G GRCh37
NC_000023.9:g.63329107A>G NCBI36
NG_021345.1:g.18243T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.785T>C MANE Select ENSP00000364003.4:p.Met262Thr
ENST00000330258.3:c.785T>C ENSP00000329117.3:p.Met262Thr
ENST00000374869.7:c.785T>C ENSP00000364003.3:p.Met262Thr
NM_152424.3:c.785T>C NP_689637.3:p.Met262Thr
XM_011530858.1:c.785T>C XP_011529160.1:p.Met262Thr
NM_152424.4:c.785T>C MANE Select NP_689637.3:p.Met262Thr
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