Canonical Allele Identifier: CA413448835

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253286A>C (hg19) ; chrX:g.70033436A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033436A>C , CM000685.2:g.70033436A>C	GRCh38
NC_000023.10:g.69253286A>C , CM000685.1:g.69253286A>C	GRCh37
NC_000023.9:g.69170011A>C	NCBI36
NG_009809.1:g.422376A>C
NG_009809.2:g.422370A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.832A>C MANE Select	ENSP00000363680.4:p.Thr278Pro
ENST00000374552.8:c.832A>C	ENSP00000363680.4:p.Thr278Pro
ENST00000374553.6:c.832A>C	ENSP00000363681.2:p.Thr278Pro
ENST00000524573.5:c.823A>C	ENSP00000432585.1:p.Thr275Pro
ENST00000616899.1:c.436A>C	ENSP00000481963.1:p.Thr146Pro
NM_001005609.1:c.832A>C	NP_001005609.1:p.Thr278Pro
NM_001005612.2:c.823A>C	NP_001005612.2:p.Thr275Pro
NM_001399.4:c.832A>C	NP_001390.1:p.Thr278Pro
XM_006724630.2:c.823A>C	XP_006724693.1:p.Thr275Pro
XM_011530885.1:c.832A>C	XP_011529187.1:p.Thr278Pro
XM_011530885.2:c.832A>C	XP_011529187.1:p.Thr278Pro
XM_017029336.1:c.832A>C	XP_016884825.1:p.Thr278Pro
NM_001399.5:c.832A>C MANE Select	NP_001390.1:p.Thr278Pro
NM_001005609.2:c.832A>C	NP_001005609.1:p.Thr278Pro
NM_001005612.3:c.823A>C	NP_001005612.2:p.Thr275Pro