Canonical Allele Identifier: CA517040967
Gene: AMER1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.63412252C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192372C>G , CM000685.2:g.64192372C>G GRCh38
NC_000023.10:g.63412252C>G , CM000685.1:g.63412252C>G GRCh37
NC_000023.9:g.63328977C>G NCBI36
NG_021345.1:g.18373G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.915G>C MANE Select ENSP00000364003.4:p.Val305=
ENST00000330258.3:c.915G>C ENSP00000329117.3:p.Val305=
ENST00000374869.7:c.915G>C ENSP00000364003.3:p.Val305=
NM_152424.3:c.915G>C NP_689637.3:p.Val305=
XM_011530858.1:c.915G>C XP_011529160.1:p.Val305=
NM_152424.4:c.915G>C MANE Select NP_689637.3:p.Val305=