Canonical Allele Identifier: CA517040849

Gene: AMER1

Linked Data

• ClinVar Variation Id: 2123508
• ClinVar RCV Id: RCV003055113
• MyVariant Identifiers: chrX:g.63411874T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64191994T>G , CM000685.2:g.64191994T>G	GRCh38
NC_000023.10:g.63411874T>G , CM000685.1:g.63411874T>G	GRCh37
NC_000023.9:g.63328599T>G	NCBI36
NG_021345.1:g.18751A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.1293A>C MANE Select	ENSP00000364003.4:p.Pro431=
ENST00000330258.3:c.1293A>C	ENSP00000329117.3:p.Pro431=
ENST00000374869.7:c.1293A>C	ENSP00000364003.3:p.Pro431=
NM_152424.3:c.1293A>C	NP_689637.3:p.Pro431=
XM_011530858.1:c.1293A>C	XP_011529160.1:p.Pro431=
NM_152424.4:c.1293A>C MANE Select	NP_689637.3:p.Pro431=