Canonical Allele Identifier: CA504979240

Gene: RAX2

Linked Data

• gnomAD v4: 19-3770672-C-A
• MyVariant Identifiers: chr19:g.3770670C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3770672C>A , CM000681.2:g.3770672C>A	GRCh38
NC_000019.9:g.3770670C>A , CM000681.1:g.3770670C>A	GRCh37
NC_000019.8:g.3721670C>A	NCBI36
NG_011565.1:g.6550G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555633.3:c.504G>T MANE Select	ENSP00000450456.3:p.Leu168=
ENST00000555633.2:c.504G>T	ENSP00000450456.2:p.Leu168=
ENST00000555978.5:c.504G>T	ENSP00000450687.2:p.Leu168=
NM_032753.3:c.504G>T	NP_116142.1:p.Leu168=
XM_005259662.1:c.642G>T	XP_005259719.1:p.Leu214=
NM_001319074.1:c.642G>T	NP_001306003.1:p.Leu214=
NM_001319074.4:c.504G>T MANE Select	NP_001306003.2:p.Leu168=
NM_032753.4:c.504G>T	NP_116142.1:p.Leu168=