Canonical Allele Identifier: CA10432372
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs768509696
ExAC: X:63411957 C / G
gnomAD v2: X-63411957-C-G
gnomAD v4: X-64192077-C-G
MyVariant Identifiers: chrX:g.63411957C>G (hg19) chrX:g.64192077C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192077C>G , CM000685.2:g.64192077C>G GRCh38
NC_000023.10:g.63411957C>G , CM000685.1:g.63411957C>G GRCh37
NC_000023.9:g.63328682C>G NCBI36
NG_021345.1:g.18668G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1210G>C MANE Select ENSP00000364003.4:p.Asp404His
ENST00000330258.3:c.1210G>C ENSP00000329117.3:p.Asp404His
ENST00000374869.7:c.1210G>C ENSP00000364003.3:p.Asp404His
NM_152424.3:c.1210G>C NP_689637.3:p.Asp404His
XM_011530858.1:c.1210G>C XP_011529160.1:p.Asp404His
NM_152424.4:c.1210G>C MANE Select NP_689637.3:p.Asp404His
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