Canonical Allele Identifier: CA246116

Gene: SEC23B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18524635G>A , CM000682.2:g.18524635G>A	GRCh38
NC_000020.10:g.18505279G>A , CM000682.1:g.18505279G>A	GRCh37
NC_000020.9:g.18453279G>A	NCBI36
NG_016281.1:g.22092G>A
NG_016281.2:g.22154G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006363.6:c.569G>A MANE Select	NP_006354.2:p.Arg190Gln
ENST00000650089.1:c.569G>A MANE Select	ENSP00000497473.1:p.Arg190Gln
NM_001172745.1:c.569G>A	NP_001166216.1:p.Arg190Gln
NM_001172745.2:c.569G>A	NP_001166216.1:p.Arg190Gln
NM_001172745.3:c.569G>A	NP_001166216.1:p.Arg190Gln
NM_001172746.1:c.515G>A	NP_001166217.1:p.Arg172Gln
NM_001172746.2:c.515G>A	NP_001166217.1:p.Arg172Gln
NM_001172746.3:c.515G>A	NP_001166217.1:p.Arg172Gln
NM_006363.4:c.569G>A	NP_006354.2:p.Arg190Gln
NM_032985.4:c.569G>A	NP_116780.1:p.Arg190Gln
NM_032985.5:c.569G>A	NP_116780.1:p.Arg190Gln
NM_032985.6:c.569G>A	NP_116780.1:p.Arg190Gln
NM_032986.3:c.569G>A	NP_116781.1:p.Arg190Gln
NM_032986.4:c.569G>A	NP_116781.1:p.Arg190Gln
NM_032986.5:c.569G>A	NP_116781.1:p.Arg190Gln
ENST00000262544.6:c.569G>A	ENSP00000262544.2:p.Arg190Gln
ENST00000336714.7:c.569G>A	ENSP00000338844.3:p.Arg190Gln
ENST00000336714.8:c.569G>A	ENSP00000338844.3:p.Arg190Gln
ENST00000377465.5:c.569G>A	ENSP00000366685.1:p.Arg190Gln
ENST00000377465.6:c.569G>A	ENSP00000366685.1:p.Arg190Gln
ENST00000377475.7:c.569G>A	ENSP00000366695.3:p.Arg190Gln
ENST00000450074.5:c.569G>A	ENSP00000403971.1:p.Arg190Gln
ENST00000450074.6:c.569G>A	ENSP00000403971.1:p.Arg190Gln
ENST00000643747.1:c.515G>A	ENSP00000496460.1:p.Arg172Gln
XM_017027593.1:c.569G>A	XP_016883082.1:p.Arg190Gln