Canonical Allele Identifier: CA517012679

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69247753A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027903A>C , CM000685.2:g.70027903A>C	GRCh38
NC_000023.10:g.69247753A>C , CM000685.1:g.69247753A>C	GRCh37
NC_000023.9:g.69164478A>C	NCBI36
NG_009809.1:g.416843A>C
NG_009809.2:g.416837A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.573A>C MANE Select	ENSP00000363680.4:p.Pro191=
ENST00000374552.8:c.573A>C	ENSP00000363680.4:p.Pro191=
ENST00000374553.6:c.573A>C	ENSP00000363681.2:p.Pro191=
ENST00000503592.5:c.177A>C	ENSP00000423037.1:p.Pro59=
ENST00000524573.5:c.573A>C	ENSP00000432585.1:p.Pro191=
ENST00000616899.1:c.177A>C	ENSP00000481963.1:p.Pro59=
NM_001005609.1:c.573A>C	NP_001005609.1:p.Pro191=
NM_001005612.2:c.573A>C	NP_001005612.2:p.Pro191=
NM_001399.4:c.573A>C	NP_001390.1:p.Pro191=
XM_006724630.2:c.573A>C	XP_006724693.1:p.Pro191=
XM_011530885.1:c.573A>C	XP_011529187.1:p.Pro191=
XM_011530885.2:c.573A>C	XP_011529187.1:p.Pro191=
XM_017029336.1:c.573A>C	XP_016884825.1:p.Pro191=
NM_001399.5:c.573A>C MANE Select	NP_001390.1:p.Pro191=
NM_001005609.2:c.573A>C	NP_001005609.1:p.Pro191=
NM_001005612.3:c.573A>C	NP_001005612.2:p.Pro191=