Canonical Allele Identifier: CA500828397
Gene: SGCA HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48245763C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168402C>T , CM000679.2:g.50168402C>T GRCh38
NC_000017.10:g.48245763C>T , CM000679.1:g.48245763C>T GRCh37
NC_000017.9:g.45600762C>T NCBI36
NG_008889.1:g.7398C>T , LRG_203:g.7398C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.414C>T ENSP00000422030.2:p.Phe138=
ENST00000511303.6:n.139C>T
ENST00000512526.2:c.405C>T ENSP00000426606.2:n.405C>T
ENST00000682109.1:c.294C>T ENSP00000508041.1:p.Phe98=
ENST00000683226.1:n.124C>T
ENST00000683294.1:c.414C>T ENSP00000508134.1:p.Phe138=
ENST00000262018.8:c.414C>T MANE Select ENSP00000262018.3:p.Phe138=
ENST00000262018.7:c.414C>T ENSP00000262018.3:p.Phe138=
ENST00000344627.10:c.414C>T ENSP00000345522.6:p.Phe138=
ENST00000502555.5:c.*73C>T ENSP00000422817.1:n.*73C>T
ENST00000511303.5:c.135C>T ENSP00000426104.1:p.Phe45=
ENST00000512526.1:c.249C>T
ENST00000513821.5:c.414C>T ENSP00000426571.1:p.Phe138=
ENST00000513942.5:n.205C>T
ENST00000514934.1:c.*120C>T ENSP00000423168.1:n.*120C>T
NM_000023.2:c.414C>T , LRG_203t1:c.414C>T NP_000014.1:p.Phe138=
NM_001135697.1:c.414C>T NP_001129169.1:p.Phe138=
XM_011525120.1:c.414C>T XP_011523422.1:p.Phe138=
XM_011525121.1:c.414C>T XP_011523423.1:p.Phe138=
XM_011525122.1:c.414C>T XP_011523424.1:p.Phe138=
XM_011525123.1:c.414C>T XP_011523425.1:p.Phe138=
XM_011525124.1:c.108C>T XP_011523426.1:p.Phe36=
XR_934517.1:n.480C>T
NM_000023.3:c.414C>T NP_000014.1:p.Phe138=
NM_001135697.2:c.414C>T NP_001129169.1:p.Phe138=
NR_135553.1:n.470C>T
XM_011525120.2:c.576C>T XP_011523422.2:p.Phe192=
XM_011525121.2:c.576C>T XP_011523423.2:p.Phe192=
XM_011525122.2:c.576C>T XP_011523424.2:p.Phe192=
XM_011525123.2:c.576C>T XP_011523425.2:p.Phe192=
XM_011525124.2:c.108C>T XP_011523426.1:p.Phe36=
XM_024450873.1:c.108C>T XP_024306641.1:p.Phe36=
XR_002958056.1:n.932C>T
NM_000023.4:c.414C>T MANE Select NP_000014.1:p.Phe138=
NM_001135697.3:c.414C>T NP_001129169.1:p.Phe138=
NR_135553.2:n.450C>T