Canonical Allele Identifier: CA400178577

Gene: SGCA

Linked Data

• dbSNP Id: rs1224602551
• gnomAD v2: 17-48245339-C-A
• gnomAD v3: 17-50167978-C-A
• gnomAD v4: 17-50167978-C-A
• MyVariant Identifiers: chr17:g.48245339C>A (hg19) ; chr17:g.50167978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167978C>A , CM000679.2:g.50167978C>A	GRCh38
NC_000017.10:g.48245339C>A , CM000679.1:g.48245339C>A	GRCh37
NC_000017.9:g.45600338C>A	NCBI36
NG_008889.1:g.6974C>A , LRG_203:g.6974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.344C>A	ENSP00000422030.2:p.Thr115Asn
ENST00000511303.6:n.69C>A
ENST00000512526.2:c.335C>A	ENSP00000426606.2:n.335C>A
ENST00000682109.1:c.224C>A	ENSP00000508041.1:p.Thr75Asn
ENST00000683226.1:n.54C>A
ENST00000683294.1:c.344C>A	ENSP00000508134.1:p.Thr115Asn
ENST00000262018.8:c.344C>A MANE Select	ENSP00000262018.3:p.Thr115Asn
ENST00000262018.7:c.344C>A	ENSP00000262018.3:p.Thr115Asn
ENST00000344627.10:c.344C>A	ENSP00000345522.6:p.Thr115Asn
ENST00000502555.5:c.*3C>A	ENSP00000422817.1:n.*3C>A
ENST00000511303.5:c.65C>A	ENSP00000426104.1:p.Thr22Asn
ENST00000512526.1:c.179C>A
ENST00000513821.5:c.344C>A	ENSP00000426571.1:p.Thr115Asn
ENST00000513942.5:n.135C>A
ENST00000514934.1:c.*50C>A	ENSP00000423168.1:n.*50C>A
NM_000023.2:c.344C>A , LRG_203t1:c.344C>A	NP_000014.1:p.Thr115Asn
NM_001135697.1:c.344C>A	NP_001129169.1:p.Thr115Asn
XM_011525120.1:c.344C>A	XP_011523422.1:p.Thr115Asn
XM_011525121.1:c.344C>A	XP_011523423.1:p.Thr115Asn
XM_011525122.1:c.344C>A	XP_011523424.1:p.Thr115Asn
XM_011525123.1:c.344C>A	XP_011523425.1:p.Thr115Asn
XM_011525124.1:c.38C>A	XP_011523426.1:p.Thr13Asn
XR_934517.1:n.410C>A
NM_000023.3:c.344C>A	NP_000014.1:p.Thr115Asn
NM_001135697.2:c.344C>A	NP_001129169.1:p.Thr115Asn
NR_135553.1:n.400C>A
XM_011525120.2:c.506C>A	XP_011523422.2:p.Thr169Asn
XM_011525121.2:c.506C>A	XP_011523423.2:p.Thr169Asn
XM_011525122.2:c.506C>A	XP_011523424.2:p.Thr169Asn
XM_011525123.2:c.506C>A	XP_011523425.2:p.Thr169Asn
XM_011525124.2:c.38C>A	XP_011523426.1:p.Thr13Asn
XM_024450873.1:c.38C>A	XP_024306641.1:p.Thr13Asn
XR_002958056.1:n.862C>A
NM_000023.4:c.344C>A MANE Select	NP_000014.1:p.Thr115Asn
NM_001135697.3:c.344C>A	NP_001129169.1:p.Thr115Asn
NR_135553.2:n.380C>A