Canonical Allele Identifier: CA400180597
Community Standard Title: NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50169151C>T , CM000679.2:g.50169151C>T GRCh38
NC_000017.10:g.48246512C>T , CM000679.1:g.48246512C>T GRCh37
NC_000017.9:g.45601511C>T NCBI36
NG_008889.1:g.8147C>T , LRG_203:g.8147C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.644C>T MANE Select NP_000014.1:p.Ser215Phe
ENST00000262018.8:c.644C>T MANE Select ENSP00000262018.3:p.Ser215Phe
NM_000023.2:c.644C>T , LRG_203t1:c.644C>T NP_000014.1:p.Ser215Phe
NM_000023.3:c.644C>T NP_000014.1:p.Ser215Phe
NM_001135697.1:c.584+579C>T NP_001129169.1:n.584+579C>T
NM_001135697.2:c.584+579C>T NP_001129169.1:n.584+579C>T
NM_001135697.3:c.584+579C>T NP_001129169.1:n.584+579C>T
NR_135553.1:n.700C>T
NR_135553.2:n.680C>T
ENST00000262018.7:c.644C>T ENSP00000262018.3:p.Ser215Phe
ENST00000344627.10:c.584+579C>T ENSP00000345522.6:n.584+579C>T
ENST00000502555.5:c.*303C>T ENSP00000422817.1:n.*303C>T
ENST00000504073.1:c.64+47C>T
ENST00000504073.2:c.597+47C>T ENSP00000422030.2:n.597+47C>T
ENST00000511303.5:c.305+579C>T ENSP00000426104.1:n.305+579C>T
ENST00000511303.6:n.309+579C>T
ENST00000512526.1:c.419+579C>T
ENST00000512526.2:c.575+579C>T ENSP00000426606.2:n.575+579C>T
ENST00000513821.5:c.644C>T ENSP00000426571.1:p.Ser215Phe
ENST00000513942.5:n.375+579C>T
ENST00000682109.1:c.524C>T ENSP00000508041.1:p.Ser175Phe
ENST00000683226.1:n.354C>T
ENST00000683294.1:c.644C>T ENSP00000508134.1:p.Ser215Phe
XM_011525120.1:c.644C>T XP_011523422.1:p.Ser215Phe
XM_011525120.2:c.806C>T XP_011523422.2:p.Ser269Phe
XM_011525121.1:c.597+47C>T XP_011523423.1:n.597+47C>T
XM_011525121.2:c.759+47C>T XP_011523423.2:n.759+47C>T
XM_011525122.1:c.644C>T XP_011523424.1:p.Ser215Phe
XM_011525122.2:c.806C>T XP_011523424.2:p.Ser269Phe
XM_011525123.1:c.584+579C>T XP_011523425.1:n.584+579C>T
XM_011525123.2:c.746+579C>T XP_011523425.2:n.746+579C>T
XM_011525124.1:c.338C>T XP_011523426.1:p.Ser113Phe
XM_011525124.2:c.338C>T XP_011523426.1:p.Ser113Phe
XM_024450873.1:c.338C>T XP_024306641.1:p.Ser113Phe
XR_002958056.1:n.1162C>T
XR_934517.1:n.710C>T