Canonical Allele Identifier: CA10577180

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035434G>C , CM000685.2:g.70035434G>C	GRCh38
NC_000023.10:g.69255284G>C , CM000685.1:g.69255284G>C	GRCh37
NC_000023.9:g.69172009G>C	NCBI36
NG_009809.1:g.424374G>C
NG_009809.2:g.424368G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.1001G>C MANE Select	ENSP00000363680.4:p.Arg334Pro
ENST00000374552.8:c.1001G>C	ENSP00000363680.4:p.Arg334Pro
ENST00000374553.6:c.995G>C	ENSP00000363681.2:p.Arg332Pro
ENST00000524573.5:c.986G>C	ENSP00000432585.1:p.Arg329Pro
ENST00000616899.1:c.605G>C	ENSP00000481963.1:p.Arg202Pro
NM_001005609.1:c.995G>C	NP_001005609.1:p.Arg332Pro
NM_001005612.2:c.986G>C	NP_001005612.2:p.Arg329Pro
NM_001399.4:c.1001G>C	NP_001390.1:p.Arg334Pro
XM_006724630.2:c.992G>C	XP_006724693.1:p.Arg331Pro
XM_017029336.1:c.959G>C	XP_016884825.1:p.Arg320Pro
NM_001399.5:c.1001G>C MANE Select	NP_001390.1:p.Arg334Pro
NM_001005609.2:c.995G>C	NP_001005609.1:p.Arg332Pro
NM_001005612.3:c.986G>C	NP_001005612.2:p.Arg329Pro