Canonical Allele Identifier: CA2252687
Gene: SEC13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10305575G>A , CM000665.2:g.10305575G>A GRCh38
NC_000003.11:g.10347259G>A , CM000665.1:g.10347259G>A GRCh37
NC_000003.10:g.10322259G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_183352.3:c.568C>T MANE Select NP_899195.1:p.Leu190Phe
ENST00000350697.8:c.568C>T MANE Select ENSP00000312122.4:p.Leu190Phe
NM_001136026.2:c.706C>T NP_001129498.1:p.Leu236Phe
NM_001136026.3:c.706C>T NP_001129498.1:p.Leu236Phe
NM_001136232.2:c.526C>T NP_001129704.1:p.Leu176Phe
NM_001136232.3:c.526C>T NP_001129704.1:p.Leu176Phe
NM_030673.3:c.577C>T NP_109598.2:p.Leu193Phe
NM_030673.4:c.577C>T NP_109598.2:p.Leu193Phe
NM_183352.2:c.568C>T NP_899195.1:p.Leu190Phe
ENST00000337354.8:c.577C>T ENSP00000336566.4:p.Leu193Phe
ENST00000350697.7:c.568C>T ENSP00000312122.4:p.Leu190Phe
ENST00000383801.6:c.706C>T ENSP00000373312.2:p.Leu236Phe
ENST00000397109.7:c.526C>T ENSP00000380298.3:p.Leu176Phe
ENST00000397117.5:c.526C>T ENSP00000380306.1:p.Leu176Phe
ENST00000476597.1:n.336C>T
ENST00000477547.6:n.551C>T
ENST00000479868.6:n.1645C>T
ENST00000490283.1:n.136C>T
XM_005265378.2:c.622C>T XP_005265435.1:p.Leu208Phe
XM_005265379.1:c.577C>T XP_005265436.1:p.Leu193Phe
XM_005265379.3:c.577C>T XP_005265436.1:p.Leu193Phe
XM_006713288.1:c.526C>T XP_006713351.1:p.Leu176Phe
XM_011533996.1:c.622C>T XP_011532298.1:p.Leu208Phe
XM_011533997.1:c.508C>T XP_011532299.1:p.Leu170Phe
XM_017007019.1:c.706C>T XP_016862508.1:p.Leu236Phe
XM_017007020.2:c.622C>T XP_016862509.2:p.Leu208Phe
XM_017007021.2:c.568C>T XP_016862510.1:p.Leu190Phe
XM_024453701.1:c.622C>T XP_024309469.1:p.Leu208Phe
XM_024453702.1:c.622C>T XP_024309470.1:p.Leu208Phe
XM_024453703.1:c.706C>T XP_024309471.1:p.Leu236Phe
XM_024453704.1:c.526C>T XP_024309472.1:p.Leu176Phe
XM_024453705.1:c.526C>T XP_024309473.1:p.Leu176Phe