Canonical Allele Identifier: CA10439049

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035524T>C , CM000685.2:g.70035524T>C	GRCh38
NC_000023.10:g.69255374T>C , CM000685.1:g.69255374T>C	GRCh37
NC_000023.9:g.69172099T>C	NCBI36
NG_009809.1:g.424464T>C
NG_009809.2:g.424458T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1091T>C MANE Select	NP_001390.1:p.Met364Thr
ENST00000374552.9:c.1091T>C MANE Select	ENSP00000363680.4:p.Met364Thr
NM_001005609.1:c.1085T>C	NP_001005609.1:p.Met362Thr
NM_001005609.2:c.1085T>C	NP_001005609.1:p.Met362Thr
NM_001005612.2:c.1076T>C	NP_001005612.2:p.Met359Thr
NM_001005612.3:c.1076T>C	NP_001005612.2:p.Met359Thr
NM_001399.4:c.1091T>C	NP_001390.1:p.Met364Thr
ENST00000374552.8:c.1091T>C	ENSP00000363680.4:p.Met364Thr
ENST00000374553.6:c.1085T>C	ENSP00000363681.2:p.Met362Thr
ENST00000524573.5:c.1076T>C	ENSP00000432585.1:p.Met359Thr
ENST00000616899.1:c.695T>C	ENSP00000481963.1:p.Met232Thr
XM_006724630.2:c.1082T>C	XP_006724693.1:p.Met361Thr
XM_017029336.1:c.1049T>C	XP_016884825.1:p.Met350Thr