Canonical Allele Identifier: CA400179817
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168398A>T , CM000679.2:g.50168398A>T GRCh38
NC_000017.10:g.48245759A>T , CM000679.1:g.48245759A>T GRCh37
NC_000017.9:g.45600758A>T NCBI36
NG_008889.1:g.7394A>T , LRG_203:g.7394A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.410A>T ENSP00000422030.2:p.Glu137Val
ENST00000511303.6:n.135A>T
ENST00000512526.2:c.401A>T ENSP00000426606.2:n.401A>T
ENST00000682109.1:c.290A>T ENSP00000508041.1:p.Glu97Val
ENST00000683226.1:n.120A>T
ENST00000683294.1:c.410A>T ENSP00000508134.1:p.Glu137Val
ENST00000262018.8:c.410A>T MANE Select ENSP00000262018.3:p.Glu137Val
ENST00000262018.7:c.410A>T ENSP00000262018.3:p.Glu137Val
ENST00000344627.10:c.410A>T ENSP00000345522.6:p.Glu137Val
ENST00000502555.5:c.*69A>T ENSP00000422817.1:n.*69A>T
ENST00000511303.5:c.131A>T ENSP00000426104.1:p.Glu44Val
ENST00000512526.1:c.245A>T
ENST00000513821.5:c.410A>T ENSP00000426571.1:p.Glu137Val
ENST00000513942.5:n.201A>T
ENST00000514934.1:c.*116A>T ENSP00000423168.1:n.*116A>T
NM_000023.2:c.410A>T , LRG_203t1:c.410A>T NP_000014.1:p.Glu137Val
NM_001135697.1:c.410A>T NP_001129169.1:p.Glu137Val
XM_011525120.1:c.410A>T XP_011523422.1:p.Glu137Val
XM_011525121.1:c.410A>T XP_011523423.1:p.Glu137Val
XM_011525122.1:c.410A>T XP_011523424.1:p.Glu137Val
XM_011525123.1:c.410A>T XP_011523425.1:p.Glu137Val
XM_011525124.1:c.104A>T XP_011523426.1:p.Glu35Val
XR_934517.1:n.476A>T
NM_000023.3:c.410A>T NP_000014.1:p.Glu137Val
NM_001135697.2:c.410A>T NP_001129169.1:p.Glu137Val
NR_135553.1:n.466A>T
XM_011525120.2:c.572A>T XP_011523422.2:p.Glu191Val
XM_011525121.2:c.572A>T XP_011523423.2:p.Glu191Val
XM_011525122.2:c.572A>T XP_011523424.2:p.Glu191Val
XM_011525123.2:c.572A>T XP_011523425.2:p.Glu191Val
XM_011525124.2:c.104A>T XP_011523426.1:p.Glu35Val
XM_024450873.1:c.104A>T XP_024306641.1:p.Glu35Val
XR_002958056.1:n.928A>T
NM_000023.4:c.410A>T MANE Select NP_000014.1:p.Glu137Val
NM_001135697.3:c.410A>T NP_001129169.1:p.Glu137Val
NR_135553.2:n.446A>T