Canonical Allele Identifier: CA413433797

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68210173T>C , CM000685.2:g.68210173T>C	GRCh38
NC_000023.10:g.67430015T>C , CM000685.1:g.67430015T>C	GRCh37
NC_000023.9:g.67346740T>C	NCBI36
NG_008960.1:g.228285A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.812A>G MANE Select	NP_002538.1:p.Tyr271Cys
ENST00000355520.6:c.812A>G MANE Select	ENSP00000347710.5:p.Tyr271Cys
NM_002547.2:c.812A>G	NP_002538.1:p.Tyr271Cys
ENST00000355520.5:c.812A>G	ENSP00000347710.5:p.Tyr271Cys
ENST00000467444.1:n.96A>G
ENST00000679748.1:c.812A>G	ENSP00000505800.1:p.Tyr271Cys
ENST00000679822.1:c.812A>G	ENSP00000505810.1:p.Tyr271Cys
ENST00000679914.1:n.1171A>G
ENST00000680503.1:n.3314A>G
ENST00000680612.1:c.812A>G	ENSP00000505365.1:p.Tyr271Cys
ENST00000681408.1:c.707A>G	ENSP00000506619.1:p.Tyr236Cys
XM_005262270.1:c.812A>G	XP_005262327.1:p.Tyr271Cys
XM_006724653.1:c.812A>G	XP_006724716.1:p.Tyr271Cys
XM_006724653.2:c.812A>G	XP_006724716.1:p.Tyr271Cys
XM_011530961.1:c.812A>G	XP_011529263.1:p.Tyr271Cys
XM_017029555.1:c.812A>G	XP_016885044.1:p.Tyr271Cys