Canonical Allele Identifier: CA517040910
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147089320
MyVariant Identifiers: chrX:g.63412195T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192315T>G , CM000685.2:g.64192315T>G GRCh38
NC_000023.10:g.63412195T>G , CM000685.1:g.63412195T>G GRCh37
NC_000023.9:g.63328920T>G NCBI36
NG_021345.1:g.18430A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374869.8:c.972A>C MANE Select ENSP00000364003.4:p.Ser324=
ENST00000330258.3:c.972A>C ENSP00000329117.3:p.Ser324=
ENST00000374869.7:c.972A>C ENSP00000364003.3:p.Ser324=
NM_152424.3:c.972A>C NP_689637.3:p.Ser324=
XM_011530858.1:c.972A>C XP_011529160.1:p.Ser324=
NM_152424.4:c.972A>C MANE Select NP_689637.3:p.Ser324=
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Search 100 bp 3'