Canonical Allele Identifier: CA2263905629
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168407T= , CM000679.2:g.50168407T= GRCh38
NC_000017.10:g.48245768T= , CM000679.1:g.48245768T= GRCh37
NC_000017.9:g.45600767T= NCBI36
NG_008889.1:g.7403T= , LRG_203:g.7403T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.419T= ENSP00000422030.2:p.Val140=
ENST00000511303.6:n.144T=
ENST00000512526.2:c.410T= ENSP00000426606.2:n.410T=
ENST00000682109.1:c.299T= ENSP00000508041.1:p.Val100=
ENST00000683226.1:n.129T=
ENST00000683294.1:c.419T= ENSP00000508134.1:p.Val140=
ENST00000262018.8:c.419T= MANE Select ENSP00000262018.3:p.Val140=
ENST00000262018.7:c.419T= ENSP00000262018.3:p.Val140=
ENST00000344627.10:c.419T= ENSP00000345522.6:p.Val140=
ENST00000502555.5:c.*78T= ENSP00000422817.1:n.*78T=
ENST00000511303.5:c.140T= ENSP00000426104.1:p.Val47=
ENST00000512526.1:c.254T=
ENST00000513821.5:c.419T= ENSP00000426571.1:p.Val140=
ENST00000513942.5:n.210T=
ENST00000514934.1:c.*125T= ENSP00000423168.1:n.*125T=
NM_000023.2:c.419T= , LRG_203t1:c.419T= NP_000014.1:p.Val140=
NM_001135697.1:c.419T= NP_001129169.1:p.Val140=
XM_011525120.1:c.419T= XP_011523422.1:p.Val140=
XM_011525121.1:c.419T= XP_011523423.1:p.Val140=
XM_011525122.1:c.419T= XP_011523424.1:p.Val140=
XM_011525123.1:c.419T= XP_011523425.1:p.Val140=
XM_011525124.1:c.113T= XP_011523426.1:p.Val38=
XR_934517.1:n.485T=
NM_000023.3:c.419T= NP_000014.1:p.Val140=
NM_001135697.2:c.419T= NP_001129169.1:p.Val140=
NR_135553.1:n.475T=
XM_011525120.2:c.581T= XP_011523422.2:p.Val194=
XM_011525121.2:c.581T= XP_011523423.2:p.Val194=
XM_011525122.2:c.581T= XP_011523424.2:p.Val194=
XM_011525123.2:c.581T= XP_011523425.2:p.Val194=
XM_011525124.2:c.113T= XP_011523426.1:p.Val38=
XM_024450873.1:c.113T= XP_024306641.1:p.Val38=
XR_002958056.1:n.937T=
NM_000023.4:c.419T= MANE Select NP_000014.1:p.Val140=
NM_001135697.3:c.419T= NP_001129169.1:p.Val140=
NR_135553.2:n.455T=