Canonical Allele Identifier: CA348048159

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897124A>G , CM000664.2:g.108897124A>G	GRCh38
NC_000002.11:g.109513580A>G , CM000664.1:g.109513580A>G	GRCh37
NC_000002.10:g.108880012A>G	NCBI36
NG_008257.1:g.97249T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022336.4:c.1130T>C (EDAR) MANE Select	NP_071731.1:p.Leu377Pro
ENST00000258443.7:c.1130T>C (EDAR) MANE Select	ENSP00000258443.2:p.Leu377Pro
NM_022336.3:c.1130T>C (EDAR)	NP_071731.1:p.Leu377Pro
ENST00000258443.6:c.1130T>C (EDAR)	ENSP00000258443.2:p.Leu377Pro
ENST00000376651.1:c.1226T>C (EDAR)	ENSP00000365839.1:p.Leu409Pro
ENST00000409271.5:c.1226T>C (EDAR)	ENSP00000386371.1:p.Leu409Pro
XM_006712204.1:c.1226T>C (EDAR)	XP_006712267.1:p.Leu409Pro
XM_011510502.1:c.1277T>C (EDAR)	XP_011508804.1:p.Leu426Pro
XM_011510502.2:c.1370T>C (EDAR)	XP_011508804.2:p.Leu457Pro
XM_011510503.1:c.1181T>C (EDAR)	XP_011508805.1:p.Leu394Pro
XM_011510503.2:c.1274T>C (EDAR)	XP_011508805.2:p.Leu425Pro
XM_011510504.1:c.557T>C (EDAR)	XP_011508806.1:p.Leu186Pro
XM_017004623.2:c.8370+124078A>G (RANBP2)	XP_016860112.1:n.8370+124078A>G