Canonical Allele Identifier: CA16043276

Gene: EDA

Linked Data

• ClinVar Variation Id: 372359
• ClinVar RCV Id: RCV000413141 ; RCV001865280
• dbSNP Id: rs1057517731
• MyVariant Identifiers: chrX:g.69253281G>T (hg19) ; chrX:g.70033431G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033431G>T , CM000685.2:g.70033431G>T	GRCh38
NC_000023.10:g.69253281G>T , CM000685.1:g.69253281G>T	GRCh37
NC_000023.9:g.69170006G>T	NCBI36
NG_009809.1:g.422371G>T
NG_009809.2:g.422365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.827G>T MANE Select	ENSP00000363680.4:p.Arg276Leu
ENST00000374552.8:c.827G>T	ENSP00000363680.4:p.Arg276Leu
ENST00000374553.6:c.827G>T	ENSP00000363681.2:p.Arg276Leu
ENST00000524573.5:c.818G>T	ENSP00000432585.1:p.Arg273Leu
ENST00000616899.1:c.431G>T	ENSP00000481963.1:p.Arg144Leu
NM_001005609.1:c.827G>T	NP_001005609.1:p.Arg276Leu
NM_001005612.2:c.818G>T	NP_001005612.2:p.Arg273Leu
NM_001399.4:c.827G>T	NP_001390.1:p.Arg276Leu
XM_006724630.2:c.818G>T	XP_006724693.1:p.Arg273Leu
XM_011530885.1:c.827G>T	XP_011529187.1:p.Arg276Leu
XM_011530885.2:c.827G>T	XP_011529187.1:p.Arg276Leu
XM_017029336.1:c.827G>T	XP_016884825.1:p.Arg276Leu
NM_001399.5:c.827G>T MANE Select	NP_001390.1:p.Arg276Leu
NM_001005609.2:c.827G>T	NP_001005609.1:p.Arg276Leu
NM_001005612.3:c.818G>T	NP_001005612.2:p.Arg273Leu