Canonical Allele Identifier: CA413308070
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs201965033
MyVariant Identifiers: chrX:g.63411884G>C (hg19) chrX:g.64192004G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192004G>C , CM000685.2:g.64192004G>C GRCh38
NC_000023.10:g.63411884G>C , CM000685.1:g.63411884G>C GRCh37
NC_000023.9:g.63328609G>C NCBI36
NG_021345.1:g.18741C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1283C>G MANE Select ENSP00000364003.4:p.Thr428Ser
ENST00000330258.3:c.1283C>G ENSP00000329117.3:p.Thr428Ser
ENST00000374869.7:c.1283C>G ENSP00000364003.3:p.Thr428Ser
NM_152424.3:c.1283C>G NP_689637.3:p.Thr428Ser
XM_011530858.1:c.1283C>G XP_011529160.1:p.Thr428Ser
NM_152424.4:c.1283C>G MANE Select NP_689637.3:p.Thr428Ser
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