Canonical Allele Identifier: CA413309764
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs1351788055
gnomAD v4: X-64192547-G-A
MyVariant Identifiers: chrX:g.63412427G>A (hg19) chrX:g.64192547G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192547G>A , CM000685.2:g.64192547G>A GRCh38
NC_000023.10:g.63412427G>A , CM000685.1:g.63412427G>A GRCh37
NC_000023.9:g.63329152G>A NCBI36
NG_021345.1:g.18198C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.740C>T MANE Select ENSP00000364003.4:p.Pro247Leu
ENST00000330258.3:c.740C>T ENSP00000329117.3:p.Pro247Leu
ENST00000374869.7:c.740C>T ENSP00000364003.3:p.Pro247Leu
NM_152424.3:c.740C>T NP_689637.3:p.Pro247Leu
XM_011530858.1:c.740C>T XP_011529160.1:p.Pro247Leu
NM_152424.4:c.740C>T MANE Select NP_689637.3:p.Pro247Leu
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