Canonical Allele Identifier: CA517040853
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147088662
MyVariant Identifiers: chrX:g.63411877G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64191997G>C , CM000685.2:g.64191997G>C GRCh38
NC_000023.10:g.63411877G>C , CM000685.1:g.63411877G>C GRCh37
NC_000023.9:g.63328602G>C NCBI36
NG_021345.1:g.18748C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1290C>G MANE Select ENSP00000364003.4:p.Ser430=
ENST00000330258.3:c.1290C>G ENSP00000329117.3:p.Ser430=
ENST00000374869.7:c.1290C>G ENSP00000364003.3:p.Ser430=
NM_152424.3:c.1290C>G NP_689637.3:p.Ser430=
XM_011530858.1:c.1290C>G XP_011529160.1:p.Ser430=
NM_152424.4:c.1290C>G MANE Select NP_689637.3:p.Ser430=
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