Canonical Allele Identifier: CA3504855

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149915001T>G , CM000667.2:g.149915001T>G	GRCh38
NC_000005.9:g.149294564T>G , CM000667.1:g.149294564T>G	GRCh37
NC_000005.8:g.149274757T>G	NCBI36
NG_009102.1:g.34793A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.940A>C MANE Select	NP_000431.2:p.Asn314His
ENST00000255266.10:c.940A>C MANE Select	ENSP00000255266.5:p.Asn314His
NM_000440.2:c.940A>C	NP_000431.2:p.Asn314His
ENST00000255266.9:c.940A>C	ENSP00000255266.5:p.Asn314His
ENST00000508173.5:n.1060A>C
ENST00000613228.1:c.697A>C	ENSP00000478060.1:p.Asn233His
ENST00000617647.4:c.697A>C	ENSP00000482774.1:p.Asn233His
XM_011537648.1:c.940A>C	XP_011535950.1:p.Asn314His
XM_011537649.1:c.394A>C	XP_011535951.1:p.Asn132His
XM_011537650.1:c.55A>C	XP_011535952.1:p.Asn19His
XM_011537650.2:c.55A>C	XP_011535952.1:p.Asn19His
XM_017009572.2:c.697A>C	XP_016865061.1:p.Asn233His