Canonical Allele Identifier: CA500828399

Gene: SGCA

Linked Data

• gnomAD v4: 17-50168403-C-T
• MyVariant Identifiers: chr17:g.48245764C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168403C>T , CM000679.2:g.50168403C>T	GRCh38
NC_000017.10:g.48245764C>T , CM000679.1:g.48245764C>T	GRCh37
NC_000017.9:g.45600763C>T	NCBI36
NG_008889.1:g.7399C>T , LRG_203:g.7399C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.415C>T	ENSP00000422030.2:p.Leu139=
ENST00000511303.6:n.140C>T
ENST00000512526.2:c.406C>T	ENSP00000426606.2:n.406C>T
ENST00000682109.1:c.295C>T	ENSP00000508041.1:p.Leu99=
ENST00000683226.1:n.125C>T
ENST00000683294.1:c.415C>T	ENSP00000508134.1:p.Leu139=
ENST00000262018.8:c.415C>T MANE Select	ENSP00000262018.3:p.Leu139=
ENST00000262018.7:c.415C>T	ENSP00000262018.3:p.Leu139=
ENST00000344627.10:c.415C>T	ENSP00000345522.6:p.Leu139=
ENST00000502555.5:c.*74C>T	ENSP00000422817.1:n.*74C>T
ENST00000511303.5:c.136C>T	ENSP00000426104.1:p.Leu46=
ENST00000512526.1:c.250C>T
ENST00000513821.5:c.415C>T	ENSP00000426571.1:p.Leu139=
ENST00000513942.5:n.206C>T
ENST00000514934.1:c.*121C>T	ENSP00000423168.1:n.*121C>T
NM_000023.2:c.415C>T , LRG_203t1:c.415C>T	NP_000014.1:p.Leu139=
NM_001135697.1:c.415C>T	NP_001129169.1:p.Leu139=
XM_011525120.1:c.415C>T	XP_011523422.1:p.Leu139=
XM_011525121.1:c.415C>T	XP_011523423.1:p.Leu139=
XM_011525122.1:c.415C>T	XP_011523424.1:p.Leu139=
XM_011525123.1:c.415C>T	XP_011523425.1:p.Leu139=
XM_011525124.1:c.109C>T	XP_011523426.1:p.Leu37=
XR_934517.1:n.481C>T
NM_000023.3:c.415C>T	NP_000014.1:p.Leu139=
NM_001135697.2:c.415C>T	NP_001129169.1:p.Leu139=
NR_135553.1:n.471C>T
XM_011525120.2:c.577C>T	XP_011523422.2:p.Leu193=
XM_011525121.2:c.577C>T	XP_011523423.2:p.Leu193=
XM_011525122.2:c.577C>T	XP_011523424.2:p.Leu193=
XM_011525123.2:c.577C>T	XP_011523425.2:p.Leu193=
XM_011525124.2:c.109C>T	XP_011523426.1:p.Leu37=
XM_024450873.1:c.109C>T	XP_024306641.1:p.Leu37=
XR_002958056.1:n.933C>T
NM_000023.4:c.415C>T MANE Select	NP_000014.1:p.Leu139=
NM_001135697.3:c.415C>T	NP_001129169.1:p.Leu139=
NR_135553.2:n.451C>T