Canonical Allele Identifier: CA400178491

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245333T>A (hg19) ; chr17:g.50167972T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167972T>A , CM000679.2:g.50167972T>A	GRCh38
NC_000017.10:g.48245333T>A , CM000679.1:g.48245333T>A	GRCh37
NC_000017.9:g.45600332T>A	NCBI36
NG_008889.1:g.6968T>A , LRG_203:g.6968T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.338T>A	ENSP00000422030.2:p.Phe113Tyr
ENST00000511303.6:n.63T>A
ENST00000512526.2:c.329T>A	ENSP00000426606.2:p.Phe110Tyr
ENST00000682109.1:c.218T>A	ENSP00000508041.1:p.Phe73Tyr
ENST00000683226.1:n.48T>A
ENST00000683294.1:c.338T>A	ENSP00000508134.1:p.Phe113Tyr
ENST00000262018.8:c.338T>A MANE Select	ENSP00000262018.3:p.Phe113Tyr
ENST00000262018.7:c.338T>A	ENSP00000262018.3:p.Phe113Tyr
ENST00000344627.10:c.338T>A	ENSP00000345522.6:p.Phe113Tyr
ENST00000502555.5:c.183T>A	ENSP00000422817.1:p.Leu61=
ENST00000511303.5:c.59T>A	ENSP00000426104.1:p.Phe20Tyr
ENST00000512526.1:c.173T>A
ENST00000513821.5:c.338T>A	ENSP00000426571.1:p.Phe113Tyr
ENST00000513942.5:n.129T>A
ENST00000514934.1:c.*44T>A	ENSP00000423168.1:n.*44T>A
NM_000023.2:c.338T>A , LRG_203t1:c.338T>A	NP_000014.1:p.Phe113Tyr
NM_001135697.1:c.338T>A	NP_001129169.1:p.Phe113Tyr
XM_011525120.1:c.338T>A	XP_011523422.1:p.Phe113Tyr
XM_011525121.1:c.338T>A	XP_011523423.1:p.Phe113Tyr
XM_011525122.1:c.338T>A	XP_011523424.1:p.Phe113Tyr
XM_011525123.1:c.338T>A	XP_011523425.1:p.Phe113Tyr
XM_011525124.1:c.32T>A	XP_011523426.1:p.Phe11Tyr
XR_934517.1:n.404T>A
NM_000023.3:c.338T>A	NP_000014.1:p.Phe113Tyr
NM_001135697.2:c.338T>A	NP_001129169.1:p.Phe113Tyr
NR_135553.1:n.394T>A
XM_011525120.2:c.500T>A	XP_011523422.2:p.Phe167Tyr
XM_011525121.2:c.500T>A	XP_011523423.2:p.Phe167Tyr
XM_011525122.2:c.500T>A	XP_011523424.2:p.Phe167Tyr
XM_011525123.2:c.500T>A	XP_011523425.2:p.Phe167Tyr
XM_011525124.2:c.32T>A	XP_011523426.1:p.Phe11Tyr
XM_024450873.1:c.32T>A	XP_024306641.1:p.Phe11Tyr
XR_002958056.1:n.856T>A
NM_000023.4:c.338T>A MANE Select	NP_000014.1:p.Phe113Tyr
NM_001135697.3:c.338T>A	NP_001129169.1:p.Phe113Tyr
NR_135553.2:n.374T>A