Canonical Allele Identifier: CA413447379

Gene: EDA

Linked Data

• dbSNP Id: rs1931954062
• gnomAD v4: X-69616558-C-T
• MyVariant Identifiers: chrX:g.68836402C>T (hg19) ; chrX:g.69616558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69616558C>T , CM000685.2:g.69616558C>T	GRCh38
NC_000023.10:g.68836402C>T , CM000685.1:g.68836402C>T	GRCh37
NC_000023.9:g.68753127C>T	NCBI36
NG_009809.1:g.5492C>T
NG_009809.2:g.5492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.250C>T MANE Select	ENSP00000363680.4:p.Pro84Ser
ENST00000338901.4:c.250C>T	ENSP00000340611.4:p.Pro84Ser
ENST00000374548.5:n.492C>T
ENST00000374552.8:c.250C>T	ENSP00000363680.4:p.Pro84Ser
ENST00000374553.6:c.250C>T	ENSP00000363681.2:p.Pro84Ser
ENST00000502251.5:n.492C>T
ENST00000524573.5:c.250C>T	ENSP00000432585.1:p.Pro84Ser
ENST00000525810.5:c.250C>T	ENSP00000434195.1:p.Pro84Ser
ENST00000527388.5:c.250C>T	ENSP00000434861.1:p.Pro84Ser
ENST00000533317.5:n.492C>T
NM_001005609.1:c.250C>T	NP_001005609.1:p.Pro84Ser
NM_001005610.3:c.250C>T	NP_001005610.2:p.Pro84Ser
NM_001005612.2:c.250C>T	NP_001005612.2:p.Pro84Ser
NM_001005613.3:c.250C>T	NP_001005613.1:p.Pro84Ser
NM_001399.4:c.250C>T	NP_001390.1:p.Pro84Ser
XM_006724630.2:c.250C>T	XP_006724693.1:p.Pro84Ser
XM_011530885.1:c.250C>T	XP_011529187.1:p.Pro84Ser
XM_011530885.2:c.250C>T	XP_011529187.1:p.Pro84Ser
XM_017029336.1:c.250C>T	XP_016884825.1:p.Pro84Ser
XM_017029337.1:c.250C>T	XP_016884826.1:p.Pro84Ser
XR_001755660.1:n.473C>T
NM_001399.5:c.250C>T MANE Select	NP_001390.1:p.Pro84Ser
NM_001005609.2:c.250C>T	NP_001005609.1:p.Pro84Ser
NM_001005610.4:c.250C>T	NP_001005610.2:p.Pro84Ser
NM_001005612.3:c.250C>T	NP_001005612.2:p.Pro84Ser
NM_001005613.4:c.250C>T	NP_001005613.1:p.Pro84Ser