Canonical Allele Identifier: CA400178806

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245360T>A (hg19) ; chr17:g.50167999T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167999T>A , CM000679.2:g.50167999T>A	GRCh38
NC_000017.10:g.48245360T>A , CM000679.1:g.48245360T>A	GRCh37
NC_000017.9:g.45600359T>A	NCBI36
NG_008889.1:g.6995T>A , LRG_203:g.6995T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.365T>A	ENSP00000422030.2:p.Leu122Gln
ENST00000511303.6:n.90T>A
ENST00000512526.2:c.356T>A	ENSP00000426606.2:n.356T>A
ENST00000682109.1:c.245T>A	ENSP00000508041.1:p.Leu82Gln
ENST00000683226.1:n.75T>A
ENST00000683294.1:c.365T>A	ENSP00000508134.1:p.Leu122Gln
ENST00000262018.8:c.365T>A MANE Select	ENSP00000262018.3:p.Leu122Gln
ENST00000262018.7:c.365T>A	ENSP00000262018.3:p.Leu122Gln
ENST00000344627.10:c.365T>A	ENSP00000345522.6:p.Leu122Gln
ENST00000502555.5:c.*24T>A	ENSP00000422817.1:n.*24T>A
ENST00000511303.5:c.86T>A	ENSP00000426104.1:p.Leu29Gln
ENST00000512526.1:c.200T>A
ENST00000513821.5:c.365T>A	ENSP00000426571.1:p.Leu122Gln
ENST00000513942.5:n.156T>A
ENST00000514934.1:c.*71T>A	ENSP00000423168.1:n.*71T>A
NM_000023.2:c.365T>A , LRG_203t1:c.365T>A	NP_000014.1:p.Leu122Gln
NM_001135697.1:c.365T>A	NP_001129169.1:p.Leu122Gln
XM_011525120.1:c.365T>A	XP_011523422.1:p.Leu122Gln
XM_011525121.1:c.365T>A	XP_011523423.1:p.Leu122Gln
XM_011525122.1:c.365T>A	XP_011523424.1:p.Leu122Gln
XM_011525123.1:c.365T>A	XP_011523425.1:p.Leu122Gln
XM_011525124.1:c.59T>A	XP_011523426.1:p.Leu20Gln
XR_934517.1:n.431T>A
NM_000023.3:c.365T>A	NP_000014.1:p.Leu122Gln
NM_001135697.2:c.365T>A	NP_001129169.1:p.Leu122Gln
NR_135553.1:n.421T>A
XM_011525120.2:c.527T>A	XP_011523422.2:p.Leu176Gln
XM_011525121.2:c.527T>A	XP_011523423.2:p.Leu176Gln
XM_011525122.2:c.527T>A	XP_011523424.2:p.Leu176Gln
XM_011525123.2:c.527T>A	XP_011523425.2:p.Leu176Gln
XM_011525124.2:c.59T>A	XP_011523426.1:p.Leu20Gln
XM_024450873.1:c.59T>A	XP_024306641.1:p.Leu20Gln
XR_002958056.1:n.883T>A
NM_000023.4:c.365T>A MANE Select	NP_000014.1:p.Leu122Gln
NM_001135697.3:c.365T>A	NP_001129169.1:p.Leu122Gln
NR_135553.2:n.401T>A