Canonical Allele Identifier: CA356834547
Community Standard Title: NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter)
Gene: CNGA1 HGNC NCBI
NIPAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47949886G>T , CM000666.2:g.47949886G>T GRCh38
NC_000004.11:g.47951903G>T , CM000666.1:g.47951903G>T GRCh37
NC_000004.10:g.47646660G>T NCBI36
NG_009193.1:g.68059C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001379270.1:c.234C>A (CNGA1) MANE Select NP_001366199.1:p.Tyr78Ter
ENST00000514170.7:c.234C>A (CNGA1) MANE Select ENSP00000426862.3:p.Tyr78Ter
NM_000087.3:c.246C>A (CNGA1) NP_000078.2:p.Tyr82Ter
NM_000087.4:c.246C>A (CNGA1) NP_000078.2:p.Tyr82Ter
NM_000087.5:c.234C>A (CNGA1) NP_000078.3:p.Tyr78Ter
NM_001142564.1:c.453C>A (CNGA1) NP_001136036.1:p.Tyr151Ter
NM_001142564.2:c.234C>A (CNGA1) NP_001136036.2:p.Tyr78Ter
NM_001375386.1:c.246C>A (CNGA1) NP_001362315.1:p.Tyr82Ter
NR_125879.1:n.479-9138G>T
ENST00000358519.8:c.246C>A (CNGA1) ENSP00000351320.4:p.Tyr82Ter
ENST00000402813.7:c.453C>A (CNGA1) ENSP00000384264.3:p.Tyr151Ter
ENST00000402813.9:c.234C>A (CNGA1) ENSP00000384264.5:p.Tyr78Ter
ENST00000420489.6:c.246C>A (CNGA1) ENSP00000389881.2:p.Tyr82Ter
ENST00000420489.7:c.234C>A (CNGA1) ENSP00000389881.3:p.Tyr78Ter
ENST00000500571.2:n.479-9138G>T (NIPAL1)
ENST00000504722.5:c.246C>A (CNGA1) ENSP00000423721.1:p.Tyr82Ter
ENST00000504722.6:c.234C>A (CNGA1) ENSP00000423721.2:p.Tyr78Ter
ENST00000506118.1:n.234C>A (CNGA1)
ENST00000513178.1:c.246C>A (CNGA1) ENSP00000423327.1:p.Tyr82Ter
ENST00000513178.2:c.234C>A (CNGA1) ENSP00000423327.2:p.Tyr78Ter
ENST00000513724.1:n.563+35182G>T (NIPAL1)
ENST00000514170.5:c.246C>A (CNGA1) ENSP00000426862.1:p.Tyr82Ter
ENST00000514520.5:c.246C>A (CNGA1) ENSP00000421110.1:p.Tyr82Ter
ENST00000514520.6:c.234C>A (CNGA1) ENSP00000421110.2:p.Tyr78Ter
ENST00000544810.5:c.453C>A (CNGA1) ENSP00000443401.2:p.Tyr151Ter
XM_005248049.3:c.246C>A (CNGA1) XP_005248106.1:p.Tyr82Ter
XM_005248049.4:c.471C>A (CNGA1) XP_005248106.2:p.Tyr157Ter
XM_011513623.1:c.246C>A (CNGA1) XP_011511925.1:p.Tyr82Ter
XM_011513623.2:c.246C>A (CNGA1) XP_011511925.1:p.Tyr82Ter
XM_017007712.1:c.246C>A (CNGA1) XP_016863201.1:p.Tyr82Ter