Canonical Allele Identifier: CA8780093

Gene: SRP68 ZACN GALR2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76072413T>C , CM000679.2:g.76072413T>C	GRCh38
NC_000017.10:g.74068494T>C , CM000679.1:g.74068494T>C	GRCh37
NC_000017.9:g.71580089T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307877.7:c.79A>G (SRP68) MANE Select	ENSP00000312066.1:p.Ser27Gly
ENST00000307877.6:c.79A>G (SRP68)	ENSP00000312066.1:p.Ser27Gly
ENST00000539137.5:c.79A>G (SRP68)	ENSP00000446136.1:p.Ser27Gly
ENST00000591272.1:c.79A>G (SRP68)	ENSP00000467765.1:p.Ser27Gly
ENST00000591500.1:n.216+237T>C (ZACN)
ENST00000592704.5:c.79A>G (SRP68)	ENSP00000466791.1:p.Ser27Gly
ENST00000629930.1:c.79A>G (SRP68)	ENSP00000486633.1:p.Ser27Gly
NM_001260502.1:c.79A>G (SRP68)	NP_001247431.1:p.Ser27Gly
NM_014230.3:c.79A>G (SRP68)	NP_055045.2:p.Ser27Gly
NR_048541.1:n.114A>G (SRP68)
XM_011525427.1:c.-57+237T>C (GALR2)	XP_011523729.1:n.-57+237T>C
XM_011525427.3:c.-57+237T>C (GALR2)	XP_011523729.1:n.-57+237T>C
NM_014230.4:c.79A>G (SRP68) MANE Select	NP_055045.2:p.Ser27Gly
NM_001260502.2:c.79A>G (SRP68)	NP_001247431.1:p.Ser27Gly
NR_048541.2:n.105A>G (SRP68)