Canonical Allele Identifier: CA291535993

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167422T>C , CM000679.2:g.50167422T>C	GRCh38
NC_000017.10:g.48244783T>C , CM000679.1:g.48244783T>C	GRCh37
NC_000017.9:g.45599782T>C	NCBI36
NG_008889.1:g.6418T>C , LRG_203:g.6418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.92T>C	ENSP00000422030.2:p.Leu31Pro
ENST00000511303.6:n.38-525T>C
ENST00000512526.2:c.92T>C	ENSP00000426606.2:p.Leu31Pro
ENST00000682109.1:c.38-160T>C	ENSP00000508041.1:n.38-160T>C
ENST00000683294.1:c.92T>C	ENSP00000508134.1:p.Leu31Pro
ENST00000262018.8:c.92T>C MANE Select	ENSP00000262018.3:p.Leu31Pro
ENST00000262018.7:c.92T>C	ENSP00000262018.3:p.Leu31Pro
ENST00000344627.10:c.92T>C	ENSP00000345522.6:p.Leu31Pro
ENST00000502555.5:c.92T>C	ENSP00000422817.1:p.Leu31Pro
ENST00000511303.5:c.34-525T>C	ENSP00000426104.1:n.34-525T>C
ENST00000513821.5:c.92T>C	ENSP00000426571.1:p.Leu31Pro
ENST00000513942.5:n.104-525T>C
ENST00000514934.1:c.151T>C	ENSP00000423168.1:p.Leu51=
NM_000023.2:c.92T>C , LRG_203t1:c.92T>C	NP_000014.1:p.Leu31Pro
NM_001135697.1:c.92T>C	NP_001129169.1:p.Leu31Pro
XM_011525120.1:c.92T>C	XP_011523422.1:p.Leu31Pro
XM_011525121.1:c.92T>C	XP_011523423.1:p.Leu31Pro
XM_011525122.1:c.92T>C	XP_011523424.1:p.Leu31Pro
XM_011525123.1:c.92T>C	XP_011523425.1:p.Leu31Pro
XM_011525124.1:c.-60T>C	XP_011523426.1:n.-60T>C
XR_934517.1:n.158T>C
NM_000023.3:c.92T>C	NP_000014.1:p.Leu31Pro
NM_001135697.2:c.92T>C	NP_001129169.1:p.Leu31Pro
NR_135553.1:n.148T>C
XM_011525120.2:c.254T>C	XP_011523422.2:p.Leu85Pro
XM_011525121.2:c.254T>C	XP_011523423.2:p.Leu85Pro
XM_011525122.2:c.254T>C	XP_011523424.2:p.Leu85Pro
XM_011525123.2:c.254T>C	XP_011523425.2:p.Leu85Pro
XM_011525124.2:c.-60T>C	XP_011523426.1:n.-60T>C
XM_024450873.1:c.-60T>C	XP_024306641.1:n.-60T>C
XR_002958056.1:n.610T>C
NM_000023.4:c.92T>C MANE Select	NP_000014.1:p.Leu31Pro
NM_001135697.3:c.92T>C	NP_001129169.1:p.Leu31Pro
NR_135553.2:n.128T>C