Canonical Allele Identifier: CA517040923
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147089363
MyVariant Identifiers: chrX:g.63412210C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192330C>A , CM000685.2:g.64192330C>A GRCh38
NC_000023.10:g.63412210C>A , CM000685.1:g.63412210C>A GRCh37
NC_000023.9:g.63328935C>A NCBI36
NG_021345.1:g.18415G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.957G>T MANE Select ENSP00000364003.4:p.Leu319=
ENST00000330258.3:c.957G>T ENSP00000329117.3:p.Leu319=
ENST00000374869.7:c.957G>T ENSP00000364003.3:p.Leu319=
NM_152424.3:c.957G>T NP_689637.3:p.Leu319=
XM_011530858.1:c.957G>T XP_011529160.1:p.Leu319=
NM_152424.4:c.957G>T MANE Select NP_689637.3:p.Leu319=