Canonical Allele Identifier: CA517041221
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147089746
gnomAD v4: X-64192495-G-T
MyVariant Identifiers: chrX:g.63412375G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192495G>T , CM000685.2:g.64192495G>T GRCh38
NC_000023.10:g.63412375G>T , CM000685.1:g.63412375G>T GRCh37
NC_000023.9:g.63329100G>T NCBI36
NG_021345.1:g.18250C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.792C>A MANE Select ENSP00000364003.4:p.Ala264=
ENST00000330258.3:c.792C>A ENSP00000329117.3:p.Ala264=
ENST00000374869.7:c.792C>A ENSP00000364003.3:p.Ala264=
NM_152424.3:c.792C>A NP_689637.3:p.Ala264=
XM_011530858.1:c.792C>A XP_011529160.1:p.Ala264=
NM_152424.4:c.792C>A MANE Select NP_689637.3:p.Ala264=
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