Canonical Allele Identifier: CA10432363

Gene: AMER1

Linked Data

• ClinVar Variation Id: 2148260
• ClinVar RCV Id: RCV003068765
• dbSNP Id: rs201965033
• ExAC: X:63411884 G / A
• gnomAD v2: X-63411884-G-A
• gnomAD v3: X-64192004-G-A
• gnomAD v4: X-64192004-G-A
• MyVariant Identifiers: chrX:g.63411884G>A (hg19) ; chrX:g.64192004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64192004G>A , CM000685.2:g.64192004G>A	GRCh38
NC_000023.10:g.63411884G>A , CM000685.1:g.63411884G>A	GRCh37
NC_000023.9:g.63328609G>A	NCBI36
NG_021345.1:g.18741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.1283C>T MANE Select	ENSP00000364003.4:p.Thr428Ile
ENST00000330258.3:c.1283C>T	ENSP00000329117.3:p.Thr428Ile
ENST00000374869.7:c.1283C>T	ENSP00000364003.3:p.Thr428Ile
NM_152424.3:c.1283C>T	NP_689637.3:p.Thr428Ile
XM_011530858.1:c.1283C>T	XP_011529160.1:p.Thr428Ile
NM_152424.4:c.1283C>T MANE Select	NP_689637.3:p.Thr428Ile