Canonical Allele Identifier: CA400180105

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245905C>G (hg19) ; chr17:g.50168544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168544C>G , CM000679.2:g.50168544C>G	GRCh38
NC_000017.10:g.48245905C>G , CM000679.1:g.48245905C>G	GRCh37
NC_000017.9:g.45600904C>G	NCBI36
NG_008889.1:g.7540C>G , LRG_203:g.7540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.556C>G	ENSP00000422030.2:p.Pro186Ala
ENST00000511303.6:n.281C>G
ENST00000512526.2:c.547C>G	ENSP00000426606.2:n.547C>G
ENST00000682109.1:c.436C>G	ENSP00000508041.1:p.Pro146Ala
ENST00000683226.1:n.266C>G
ENST00000683294.1:c.556C>G	ENSP00000508134.1:p.Pro186Ala
ENST00000262018.8:c.556C>G MANE Select	ENSP00000262018.3:p.Pro186Ala
ENST00000262018.7:c.556C>G	ENSP00000262018.3:p.Pro186Ala
ENST00000344627.10:c.556C>G	ENSP00000345522.6:p.Pro186Ala
ENST00000502555.5:c.*215C>G	ENSP00000422817.1:n.*215C>G
ENST00000504073.1:c.23C>G
ENST00000511303.5:c.277C>G	ENSP00000426104.1:p.Pro93Ala
ENST00000512526.1:c.391C>G
ENST00000513821.5:c.556C>G	ENSP00000426571.1:p.Pro186Ala
ENST00000513942.5:n.347C>G
ENST00000514934.1:c.*262C>G	ENSP00000423168.1:n.*262C>G
NM_000023.2:c.556C>G , LRG_203t1:c.556C>G	NP_000014.1:p.Pro186Ala
NM_001135697.1:c.556C>G	NP_001129169.1:p.Pro186Ala
XM_011525120.1:c.556C>G	XP_011523422.1:p.Pro186Ala
XM_011525121.1:c.556C>G	XP_011523423.1:p.Pro186Ala
XM_011525122.1:c.556C>G	XP_011523424.1:p.Pro186Ala
XM_011525123.1:c.556C>G	XP_011523425.1:p.Pro186Ala
XM_011525124.1:c.250C>G	XP_011523426.1:p.Pro84Ala
XR_934517.1:n.622C>G
NM_000023.3:c.556C>G	NP_000014.1:p.Pro186Ala
NM_001135697.2:c.556C>G	NP_001129169.1:p.Pro186Ala
NR_135553.1:n.612C>G
XM_011525120.2:c.718C>G	XP_011523422.2:p.Pro240Ala
XM_011525121.2:c.718C>G	XP_011523423.2:p.Pro240Ala
XM_011525122.2:c.718C>G	XP_011523424.2:p.Pro240Ala
XM_011525123.2:c.718C>G	XP_011523425.2:p.Pro240Ala
XM_011525124.2:c.250C>G	XP_011523426.1:p.Pro84Ala
XM_024450873.1:c.250C>G	XP_024306641.1:p.Pro84Ala
XR_002958056.1:n.1074C>G
NM_000023.4:c.556C>G MANE Select	NP_000014.1:p.Pro186Ala
NM_001135697.3:c.556C>G	NP_001129169.1:p.Pro186Ala
NR_135553.2:n.592C>G