Canonical Allele Identifier: CA2263905684
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168511G= , CM000679.2:g.50168511G= GRCh38
NC_000017.10:g.48245872G= , CM000679.1:g.48245872G= GRCh37
NC_000017.9:g.45600871G= NCBI36
NG_008889.1:g.7507G= , LRG_203:g.7507G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.523G= ENSP00000422030.2:p.Val175=
ENST00000511303.6:n.248G=
ENST00000512526.2:c.514G= ENSP00000426606.2:n.514G=
ENST00000682109.1:c.403G= ENSP00000508041.1:p.Val135=
ENST00000683226.1:n.233G=
ENST00000683294.1:c.523G= ENSP00000508134.1:p.Val175=
ENST00000262018.8:c.523G= MANE Select ENSP00000262018.3:p.Val175=
ENST00000262018.7:c.523G= ENSP00000262018.3:p.Val175=
ENST00000344627.10:c.523G= ENSP00000345522.6:p.Val175=
ENST00000502555.5:c.*182G= ENSP00000422817.1:n.*182G=
ENST00000511303.5:c.244G= ENSP00000426104.1:p.Val82=
ENST00000512526.1:c.358G=
ENST00000513821.5:c.523G= ENSP00000426571.1:p.Val175=
ENST00000513942.5:n.314G=
ENST00000514934.1:c.*229G= ENSP00000423168.1:n.*229G=
NM_000023.2:c.523G= , LRG_203t1:c.523G= NP_000014.1:p.Val175=
NM_001135697.1:c.523G= NP_001129169.1:p.Val175=
XM_011525120.1:c.523G= XP_011523422.1:p.Val175=
XM_011525121.1:c.523G= XP_011523423.1:p.Val175=
XM_011525122.1:c.523G= XP_011523424.1:p.Val175=
XM_011525123.1:c.523G= XP_011523425.1:p.Val175=
XM_011525124.1:c.217G= XP_011523426.1:p.Val73=
XR_934517.1:n.589G=
NM_000023.3:c.523G= NP_000014.1:p.Val175=
NM_001135697.2:c.523G= NP_001129169.1:p.Val175=
NR_135553.1:n.579G=
XM_011525120.2:c.685G= XP_011523422.2:p.Val229=
XM_011525121.2:c.685G= XP_011523423.2:p.Val229=
XM_011525122.2:c.685G= XP_011523424.2:p.Val229=
XM_011525123.2:c.685G= XP_011523425.2:p.Val229=
XM_011525124.2:c.217G= XP_011523426.1:p.Val73=
XM_024450873.1:c.217G= XP_024306641.1:p.Val73=
XR_002958056.1:n.1041G=
NM_000023.4:c.523G= MANE Select NP_000014.1:p.Val175=
NM_001135697.3:c.523G= NP_001129169.1:p.Val175=
NR_135553.2:n.559G=