Canonical Allele Identifier: CA413431975

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68119266G>A , CM000685.2:g.68119266G>A	GRCh38
NC_000023.10:g.67339108G>A , CM000685.1:g.67339108G>A	GRCh37
NC_000023.9:g.67255833G>A	NCBI36
NG_008960.1:g.319192C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.1343C>T MANE Select	NP_002538.1:p.Ser448Phe
ENST00000355520.6:c.1343C>T MANE Select	ENSP00000347710.5:p.Ser448Phe
NM_002547.2:c.1343C>T	NP_002538.1:p.Ser448Phe
ENST00000355520.5:c.1343C>T	ENSP00000347710.5:p.Ser448Phe
ENST00000679748.1:c.1343C>T	ENSP00000505800.1:p.Ser448Phe
ENST00000679822.1:c.1343C>T	ENSP00000505810.1:p.Ser448Phe
ENST00000680592.1:n.849C>T
ENST00000680612.1:c.1343C>T	ENSP00000505365.1:p.Ser448Phe
ENST00000681408.1:c.1238C>T	ENSP00000506619.1:p.Ser413Phe
XM_005262270.1:c.1343C>T	XP_005262327.1:p.Ser448Phe
XM_006724653.1:c.1343C>T	XP_006724716.1:p.Ser448Phe
XM_006724653.2:c.1343C>T	XP_006724716.1:p.Ser448Phe
XM_011530961.1:c.1343C>T	XP_011529263.1:p.Ser448Phe
XM_017029555.1:c.1343C>T	XP_016885044.1:p.Ser448Phe