Canonical Allele Identifier: CA10432368
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs745417672
ExAC: X:63411918 G / T
gnomAD v2: X-63411918-G-T
gnomAD v4: X-64192038-G-T
MyVariant Identifiers: chrX:g.63411918G>T (hg19) chrX:g.64192038G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192038G>T , CM000685.2:g.64192038G>T GRCh38
NC_000023.10:g.63411918G>T , CM000685.1:g.63411918G>T GRCh37
NC_000023.9:g.63328643G>T NCBI36
NG_021345.1:g.18707C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1249C>A MANE Select ENSP00000364003.4:p.Pro417Thr
ENST00000330258.3:c.1249C>A ENSP00000329117.3:p.Pro417Thr
ENST00000374869.7:c.1249C>A ENSP00000364003.3:p.Pro417Thr
NM_152424.3:c.1249C>A NP_689637.3:p.Pro417Thr
XM_011530858.1:c.1249C>A XP_011529160.1:p.Pro417Thr
NM_152424.4:c.1249C>A MANE Select NP_689637.3:p.Pro417Thr
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