Canonical Allele Identifier: CA517040913

Gene: AMER1

Linked Data

• dbSNP Id: rs2147088787
• gnomAD v4: X-64192048-G-A
• MyVariant Identifiers: chrX:g.63411928G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64192048G>A , CM000685.2:g.64192048G>A	GRCh38
NC_000023.10:g.63411928G>A , CM000685.1:g.63411928G>A	GRCh37
NC_000023.9:g.63328653G>A	NCBI36
NG_021345.1:g.18697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.1239C>T MANE Select	ENSP00000364003.4:p.Ala413=
ENST00000330258.3:c.1239C>T	ENSP00000329117.3:p.Ala413=
ENST00000374869.7:c.1239C>T	ENSP00000364003.3:p.Ala413=
NM_152424.3:c.1239C>T	NP_689637.3:p.Ala413=
XM_011530858.1:c.1239C>T	XP_011529160.1:p.Ala413=
NM_152424.4:c.1239C>T MANE Select	NP_689637.3:p.Ala413=