Canonical Allele Identifier: CA400178262

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245311A>T (hg19) ; chr17:g.50167950A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167950A>T , CM000679.2:g.50167950A>T	GRCh38
NC_000017.10:g.48245311A>T , CM000679.1:g.48245311A>T	GRCh37
NC_000017.9:g.45600310A>T	NCBI36
NG_008889.1:g.6946A>T , LRG_203:g.6946A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.316A>T	ENSP00000422030.2:p.Thr106Ser
ENST00000511303.6:n.41A>T
ENST00000512526.2:c.307A>T	ENSP00000426606.2:p.Thr103Ser
ENST00000682109.1:c.196A>T	ENSP00000508041.1:p.Thr66Ser
ENST00000683226.1:n.26A>T
ENST00000683294.1:c.316A>T	ENSP00000508134.1:p.Thr106Ser
ENST00000262018.8:c.316A>T MANE Select	ENSP00000262018.3:p.Thr106Ser
ENST00000262018.7:c.316A>T	ENSP00000262018.3:p.Thr106Ser
ENST00000344627.10:c.316A>T	ENSP00000345522.6:p.Thr106Ser
ENST00000502555.5:c.161A>T	ENSP00000422817.1:p.His54Leu
ENST00000511303.5:c.37A>T	ENSP00000426104.1:p.Thr13Ser
ENST00000512526.1:c.151A>T
ENST00000513821.5:c.316A>T	ENSP00000426571.1:p.Thr106Ser
ENST00000513942.5:n.107A>T
ENST00000514934.1:c.*22A>T	ENSP00000423168.1:n.*22A>T
NM_000023.2:c.316A>T , LRG_203t1:c.316A>T	NP_000014.1:p.Thr106Ser
NM_001135697.1:c.316A>T	NP_001129169.1:p.Thr106Ser
XM_011525120.1:c.316A>T	XP_011523422.1:p.Thr106Ser
XM_011525121.1:c.316A>T	XP_011523423.1:p.Thr106Ser
XM_011525122.1:c.316A>T	XP_011523424.1:p.Thr106Ser
XM_011525123.1:c.316A>T	XP_011523425.1:p.Thr106Ser
XM_011525124.1:c.10A>T	XP_011523426.1:p.Thr4Ser
XR_934517.1:n.382A>T
NM_000023.3:c.316A>T	NP_000014.1:p.Thr106Ser
NM_001135697.2:c.316A>T	NP_001129169.1:p.Thr106Ser
NR_135553.1:n.372A>T
XM_011525120.2:c.478A>T	XP_011523422.2:p.Thr160Ser
XM_011525121.2:c.478A>T	XP_011523423.2:p.Thr160Ser
XM_011525122.2:c.478A>T	XP_011523424.2:p.Thr160Ser
XM_011525123.2:c.478A>T	XP_011523425.2:p.Thr160Ser
XM_011525124.2:c.10A>T	XP_011523426.1:p.Thr4Ser
XM_024450873.1:c.10A>T	XP_024306641.1:p.Thr4Ser
XR_002958056.1:n.834A>T
NM_000023.4:c.316A>T MANE Select	NP_000014.1:p.Thr106Ser
NM_001135697.3:c.316A>T	NP_001129169.1:p.Thr106Ser
NR_135553.2:n.352A>T