Canonical Allele Identifier: CA400178248

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245309T>A (hg19) ; chr17:g.50167948T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167948T>A , CM000679.2:g.50167948T>A	GRCh38
NC_000017.10:g.48245309T>A , CM000679.1:g.48245309T>A	GRCh37
NC_000017.9:g.45600308T>A	NCBI36
NG_008889.1:g.6944T>A , LRG_203:g.6944T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.314T>A	ENSP00000422030.2:p.Val105Asp
ENST00000511303.6:n.39T>A
ENST00000512526.2:c.305T>A	ENSP00000426606.2:p.Val102Asp
ENST00000682109.1:c.194T>A	ENSP00000508041.1:p.Val65Asp
ENST00000683226.1:n.24T>A
ENST00000683294.1:c.314T>A	ENSP00000508134.1:p.Val105Asp
ENST00000262018.8:c.314T>A MANE Select	ENSP00000262018.3:p.Val105Asp
ENST00000262018.7:c.314T>A	ENSP00000262018.3:p.Val105Asp
ENST00000344627.10:c.314T>A	ENSP00000345522.6:p.Val105Asp
ENST00000502555.5:c.159T>A	ENSP00000422817.1:p.Gly53=
ENST00000511303.5:c.35T>A	ENSP00000426104.1:p.Val12Asp
ENST00000512526.1:c.149T>A
ENST00000513821.5:c.314T>A	ENSP00000426571.1:p.Val105Asp
ENST00000513942.5:n.105T>A
ENST00000514934.1:c.*20T>A	ENSP00000423168.1:n.*20T>A
NM_000023.2:c.314T>A , LRG_203t1:c.314T>A	NP_000014.1:p.Val105Asp
NM_001135697.1:c.314T>A	NP_001129169.1:p.Val105Asp
XM_011525120.1:c.314T>A	XP_011523422.1:p.Val105Asp
XM_011525121.1:c.314T>A	XP_011523423.1:p.Val105Asp
XM_011525122.1:c.314T>A	XP_011523424.1:p.Val105Asp
XM_011525123.1:c.314T>A	XP_011523425.1:p.Val105Asp
XM_011525124.1:c.8T>A	XP_011523426.1:p.Val3Asp
XR_934517.1:n.380T>A
NM_000023.3:c.314T>A	NP_000014.1:p.Val105Asp
NM_001135697.2:c.314T>A	NP_001129169.1:p.Val105Asp
NR_135553.1:n.370T>A
XM_011525120.2:c.476T>A	XP_011523422.2:p.Val159Asp
XM_011525121.2:c.476T>A	XP_011523423.2:p.Val159Asp
XM_011525122.2:c.476T>A	XP_011523424.2:p.Val159Asp
XM_011525123.2:c.476T>A	XP_011523425.2:p.Val159Asp
XM_011525124.2:c.8T>A	XP_011523426.1:p.Val3Asp
XM_024450873.1:c.8T>A	XP_024306641.1:p.Val3Asp
XR_002958056.1:n.832T>A
NM_000023.4:c.314T>A MANE Select	NP_000014.1:p.Val105Asp
NM_001135697.3:c.314T>A	NP_001129169.1:p.Val105Asp
NR_135553.2:n.350T>A