Canonical Allele Identifier: CA8643637
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50166032C>T , CM000679.2:g.50166032C>T GRCh38
NC_000017.10:g.48243393C>T , CM000679.1:g.48243393C>T GRCh37
NC_000017.9:g.45598392C>T NCBI36
NG_008889.1:g.5028C>T , LRG_203:g.5028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683294.1:c.-9C>T ENSP00000508134.1:n.-9C>T
ENST00000262018.8:c.-9C>T MANE Select ENSP00000262018.3:n.-9C>T
ENST00000262018.7:c.-9C>T ENSP00000262018.3:n.-9C>T
ENST00000344627.10:c.-9C>T ENSP00000345522.6:n.-9C>T
ENST00000502555.5:c.-9C>T ENSP00000422817.1:n.-9C>T
ENST00000513821.5:c.-9C>T ENSP00000426571.1:n.-9C>T
ENST00000513942.5:n.103+1716C>T
ENST00000514934.1:c.-9C>T ENSP00000423168.1:n.-9C>T
NM_000023.2:c.-9C>T , LRG_203t1:c.-9C>T NP_000014.1:n.-9C>T
NM_001135697.1:c.-9C>T NP_001129169.1:n.-9C>T
XM_011525120.1:c.-9C>T XP_011523422.1:n.-9C>T
XM_011525121.1:c.-9C>T XP_011523423.1:n.-9C>T
XM_011525122.1:c.-9C>T XP_011523424.1:n.-9C>T
XM_011525123.1:c.-9C>T XP_011523425.1:n.-9C>T
XM_011525124.1:c.-160C>T XP_011523426.1:n.-160C>T
XR_934517.1:n.58C>T
XR_934832.1:n.72G>A
XR_934833.1:n.72G>A
XR_934834.1:n.72G>A
XR_934835.1:n.72G>A
NM_000023.3:c.-9C>T NP_000014.1:n.-9C>T
NM_001135697.2:c.-9C>T NP_001129169.1:n.-9C>T
NR_135553.1:n.48C>T
XM_011525120.2:c.154C>T XP_011523422.2:p.Arg52Trp
XM_011525121.2:c.154C>T XP_011523423.2:p.Arg52Trp
XM_011525122.2:c.154C>T XP_011523424.2:p.Arg52Trp
XM_011525123.2:c.154C>T XP_011523425.2:p.Arg52Trp
XM_011525124.2:c.-160C>T XP_011523426.1:n.-160C>T
XM_024450873.1:c.-160C>T XP_024306641.1:n.-160C>T
XR_001752932.1:n.691G>A
XR_002958056.1:n.510C>T
XR_934832.2:n.691G>A
XR_934833.2:n.691G>A
XR_934835.2:n.691G>A
NM_000023.4:c.-9C>T MANE Select NP_000014.1:n.-9C>T
NM_001135697.3:c.-9C>T NP_001129169.1:n.-9C>T
NR_135553.2:n.28C>T