Canonical Allele Identifier: CA291538772

Gene: H1-9P SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50175092C>T , CM000679.2:g.50175092C>T	GRCh38
NC_000017.10:g.48252453C>T , CM000679.1:g.48252453C>T	GRCh37
NC_000017.9:g.45607452C>T	NCBI36
NG_008889.1:g.14088C>T , LRG_203:g.14088C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.984-165C>T (SGCA) MANE Select	NP_000014.1:n.984-165C>T
ENST00000262018.8:c.984-165C>T (SGCA) MANE Select	ENSP00000262018.3:n.984-165C>T
NM_000023.2:c.984-165C>T , LRG_203t1:c.984-165C>T (SGCA)	NP_000014.1:n.984-165C>T
NM_000023.3:c.984-165C>T (SGCA)	NP_000014.1:n.984-165C>T
NM_001135697.1:c.612-165C>T (SGCA)	NP_001129169.1:n.612-165C>T
NM_001135697.2:c.612-165C>T (SGCA)	NP_001129169.1:n.612-165C>T
NM_001135697.3:c.612-165C>T (SGCA)	NP_001129169.1:n.612-165C>T
NR_135553.1:n.831-165C>T (SGCA)
NR_135553.2:n.811-165C>T (SGCA)
ENST00000262018.7:c.984-165C>T (SGCA)	ENSP00000262018.3:n.984-165C>T
ENST00000344627.10:c.612-165C>T (SGCA)	ENSP00000345522.6:n.612-165C>T
ENST00000504073.1:c.301-165C>T (SGCA)
ENST00000504073.2:c.834-165C>T (SGCA)	ENSP00000422030.2:n.834-165C>T
ENST00000504307.1:n.470-2915G>A (H1-9P)
ENST00000504307.2:n.492-2915G>A (H1-9P)
ENST00000504307.3:n.547-2915G>A (H1-9P)
ENST00000508382.1:n.29-165C>T (SGCA)
ENST00000511303.5:c.333-165C>T (SGCA)	ENSP00000426104.1:n.333-165C>T
ENST00000511303.6:n.337-165C>T (SGCA)
ENST00000512526.1:c.447-165C>T (SGCA)
ENST00000512526.2:c.603-165C>T (SGCA)	ENSP00000426606.2:n.603-165C>T
ENST00000513821.5:c.775-165C>T (SGCA)	ENSP00000426571.1:n.775-165C>T
ENST00000513942.5:n.403-165C>T (SGCA)
ENST00000682109.1:c.864-165C>T (SGCA)	ENSP00000508041.1:n.864-165C>T
ENST00000683226.1:n.1582-165C>T (SGCA)
ENST00000683294.1:c.*87-165C>T (SGCA)	ENSP00000508134.1:n.*87-165C>T
ENST00000683544.1:n.638-165C>T (SGCA)
XM_011525120.1:c.984-165C>T (SGCA)	XP_011523422.1:n.984-165C>T
XM_011525120.2:c.1146-165C>T (SGCA)	XP_011523422.2:n.1146-165C>T
XM_011525121.1:c.834-165C>T (SGCA)	XP_011523423.1:n.834-165C>T
XM_011525121.2:c.996-165C>T (SGCA)	XP_011523423.2:n.996-165C>T
XM_011525122.1:c.775-165C>T (SGCA)	XP_011523424.1:n.775-165C>T
XM_011525122.2:c.937-165C>T (SGCA)	XP_011523424.2:n.937-165C>T
XM_011525123.1:c.612-165C>T (SGCA)	XP_011523425.1:n.612-165C>T
XM_011525123.2:c.774-165C>T (SGCA)	XP_011523425.2:n.774-165C>T
XM_011525124.1:c.678-165C>T (SGCA)	XP_011523426.1:n.678-165C>T
XM_011525124.2:c.678-165C>T (SGCA)	XP_011523426.1:n.678-165C>T
XM_024450873.1:c.678-165C>T (SGCA)	XP_024306641.1:n.678-165C>T
XR_002958056.1:n.1581-165C>T (SGCA)
XR_934517.1:n.841-165C>T (SGCA)