Canonical Allele Identifier: CA582717029

Gene: EYA1

Linked Data

• dbSNP Id: rs1448145601
• gnomAD v2: 8-72274510-C-T
• gnomAD v3: 8-71362275-C-T
• gnomAD v4: 8-71362275-C-T
• MyVariant Identifiers: chr8:g.72274510C>T (hg19) ; chr8:g.71362275C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71362275C>T , CM000670.2:g.71362275C>T	GRCh38
NC_000008.10:g.72274510C>T , CM000670.1:g.72274510C>T	GRCh37
NC_000008.9:g.72437064C>T	NCBI36
NG_011735.2:g.4958G>A
NG_011735.3:g.190856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643681.1:c.34-5764G>A	ENSP00000495390.1:n.34-5764G>A
ENST00000644229.1:c.34-5764G>A	ENSP00000494568.1:n.34-5764G>A
ENST00000644712.1:c.34-5764G>A	ENSP00000496188.1:n.34-5764G>A
ENST00000645793.1:c.-54-5764G>A	ENSP00000496255.1:n.-54-5764G>A
ENST00000647540.1:c.-54-5764G>A	ENSP00000494438.1:n.-54-5764G>A
XM_011517481.1:c.22-5764G>A	XP_011515783.1:n.22-5764G>A
XM_011517482.1:c.34-5764G>A	XP_011515784.1:n.34-5764G>A
XM_011517485.1:c.-54-5764G>A	XP_011515787.1:n.-54-5764G>A
XM_011517486.1:c.-54-5764G>A	XP_011515788.1:n.-54-5764G>A
XM_011517487.1:c.-54-5764G>A	XP_011515789.1:n.-54-5764G>A
XM_011517489.1:c.12-5764G>A	XP_011515791.1:n.12-5764G>A
XM_011517491.1:c.-25-5764G>A	XP_011515793.1:n.-25-5764G>A
NM_172059.4:c.34-5764G>A	NP_742056.2:n.34-5764G>A
XM_011517484.3:c.34-5764G>A	XP_011515786.2:n.34-5764G>A
XM_017013201.1:c.34-5764G>A	XP_016868690.1:n.34-5764G>A
XM_017013202.1:c.34-5764G>A	XP_016868691.1:n.34-5764G>A
XM_017013203.2:c.34-5764G>A	XP_016868692.1:n.34-5764G>A
XM_017013204.2:c.34-5764G>A	XP_016868693.1:n.34-5764G>A
XM_017013205.2:c.34-5764G>A	XP_016868694.1:n.34-5764G>A
XM_017013206.1:c.-54-5764G>A	XP_016868695.1:n.-54-5764G>A
XM_017013207.2:c.34-5764G>A	XP_016868696.1:n.34-5764G>A
XM_017013210.2:c.34-5764G>A	XP_016868699.1:n.34-5764G>A
XM_017013211.2:c.12-5764G>A	XP_016868700.1:n.12-5764G>A
NM_001370333.1:c.34-5764G>A	NP_001357262.1:n.34-5764G>A
NM_001370334.1:c.-54-5764G>A	NP_001357263.1:n.-54-5764G>A
NM_001370335.1:c.-54-5764G>A	NP_001357264.1:n.-54-5764G>A
NM_001370336.1:c.34-5764G>A	NP_001357265.1:n.34-5764G>A
NM_172059.5:c.34-5764G>A	NP_742056.2:n.34-5764G>A