Canonical Allele Identifier: CA400177739

Gene: SGCA

Linked Data

• ClinVar Variation Id: 659203
• ClinVar RCV Id: RCV000816168 ; RCV002235336
• dbSNP Id: rs773161308
• gnomAD v4: 17-50167689-C-T
• MyVariant Identifiers: chr17:g.48245050C>T (hg19) ; chr17:g.50167689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167689C>T , CM000679.2:g.50167689C>T	GRCh38
NC_000017.10:g.48245050C>T , CM000679.1:g.48245050C>T	GRCh37
NC_000017.9:g.45600049C>T	NCBI36
NG_008889.1:g.6685C>T , LRG_203:g.6685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.265C>T	ENSP00000422030.2:p.Leu89Phe
ENST00000511303.6:n.38-258C>T
ENST00000512526.2:c.265C>T	ENSP00000426606.2:p.Leu89Phe
ENST00000682109.1:c.145C>T	ENSP00000508041.1:p.Leu49Phe
ENST00000683294.1:c.265C>T	ENSP00000508134.1:p.Leu89Phe
ENST00000262018.8:c.265C>T MANE Select	ENSP00000262018.3:p.Leu89Phe
ENST00000262018.7:c.265C>T	ENSP00000262018.3:p.Leu89Phe
ENST00000344627.10:c.265C>T	ENSP00000345522.6:p.Leu89Phe
ENST00000502555.5:c.157+202C>T	ENSP00000422817.1:n.157+202C>T
ENST00000511303.5:c.34-258C>T	ENSP00000426104.1:n.34-258C>T
ENST00000512526.1:c.109C>T
ENST00000513821.5:c.265C>T	ENSP00000426571.1:p.Leu89Phe
ENST00000513942.5:n.104-258C>T
ENST00000514934.1:c.*18+202C>T	ENSP00000423168.1:n.*18+202C>T
NM_000023.2:c.265C>T , LRG_203t1:c.265C>T	NP_000014.1:p.Leu89Phe
NM_001135697.1:c.265C>T	NP_001129169.1:p.Leu89Phe
XM_011525120.1:c.265C>T	XP_011523422.1:p.Leu89Phe
XM_011525121.1:c.265C>T	XP_011523423.1:p.Leu89Phe
XM_011525122.1:c.265C>T	XP_011523424.1:p.Leu89Phe
XM_011525123.1:c.265C>T	XP_011523425.1:p.Leu89Phe
XM_011525124.1:c.6+202C>T	XP_011523426.1:n.6+202C>T
XR_934517.1:n.331C>T
NM_000023.3:c.265C>T	NP_000014.1:p.Leu89Phe
NM_001135697.2:c.265C>T	NP_001129169.1:p.Leu89Phe
NR_135553.1:n.321C>T
XM_011525120.2:c.427C>T	XP_011523422.2:p.Leu143Phe
XM_011525121.2:c.427C>T	XP_011523423.2:p.Leu143Phe
XM_011525122.2:c.427C>T	XP_011523424.2:p.Leu143Phe
XM_011525123.2:c.427C>T	XP_011523425.2:p.Leu143Phe
XM_011525124.2:c.6+202C>T	XP_011523426.1:n.6+202C>T
XM_024450873.1:c.6+202C>T	XP_024306641.1:n.6+202C>T
XR_002958056.1:n.783C>T
NM_000023.4:c.265C>T MANE Select	NP_000014.1:p.Leu89Phe
NM_001135697.3:c.265C>T	NP_001129169.1:p.Leu89Phe
NR_135553.2:n.301C>T