Canonical Allele Identifier: CA400177716

Gene: SGCA

Linked Data

• gnomAD v4: 17-50167686-T-C
• MyVariant Identifiers: chr17:g.48245047T>C (hg19) ; chr17:g.50167686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167686T>C , CM000679.2:g.50167686T>C	GRCh38
NC_000017.10:g.48245047T>C , CM000679.1:g.48245047T>C	GRCh37
NC_000017.9:g.45600046T>C	NCBI36
NG_008889.1:g.6682T>C , LRG_203:g.6682T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.262T>C	ENSP00000422030.2:p.Phe88Leu
ENST00000511303.6:n.38-261T>C
ENST00000512526.2:c.262T>C	ENSP00000426606.2:p.Phe88Leu
ENST00000682109.1:c.142T>C	ENSP00000508041.1:p.Phe48Leu
ENST00000683294.1:c.262T>C	ENSP00000508134.1:p.Phe88Leu
ENST00000262018.8:c.262T>C MANE Select	ENSP00000262018.3:p.Phe88Leu
ENST00000262018.7:c.262T>C	ENSP00000262018.3:p.Phe88Leu
ENST00000344627.10:c.262T>C	ENSP00000345522.6:p.Phe88Leu
ENST00000502555.5:c.157+199T>C	ENSP00000422817.1:n.157+199T>C
ENST00000511303.5:c.34-261T>C	ENSP00000426104.1:n.34-261T>C
ENST00000512526.1:c.106T>C
ENST00000513821.5:c.262T>C	ENSP00000426571.1:p.Phe88Leu
ENST00000513942.5:n.104-261T>C
ENST00000514934.1:c.*18+199T>C	ENSP00000423168.1:n.*18+199T>C
NM_000023.2:c.262T>C , LRG_203t1:c.262T>C	NP_000014.1:p.Phe88Leu
NM_001135697.1:c.262T>C	NP_001129169.1:p.Phe88Leu
XM_011525120.1:c.262T>C	XP_011523422.1:p.Phe88Leu
XM_011525121.1:c.262T>C	XP_011523423.1:p.Phe88Leu
XM_011525122.1:c.262T>C	XP_011523424.1:p.Phe88Leu
XM_011525123.1:c.262T>C	XP_011523425.1:p.Phe88Leu
XM_011525124.1:c.6+199T>C	XP_011523426.1:n.6+199T>C
XR_934517.1:n.328T>C
NM_000023.3:c.262T>C	NP_000014.1:p.Phe88Leu
NM_001135697.2:c.262T>C	NP_001129169.1:p.Phe88Leu
NR_135553.1:n.318T>C
XM_011525120.2:c.424T>C	XP_011523422.2:p.Phe142Leu
XM_011525121.2:c.424T>C	XP_011523423.2:p.Phe142Leu
XM_011525122.2:c.424T>C	XP_011523424.2:p.Phe142Leu
XM_011525123.2:c.424T>C	XP_011523425.2:p.Phe142Leu
XM_011525124.2:c.6+199T>C	XP_011523426.1:n.6+199T>C
XM_024450873.1:c.6+199T>C	XP_024306641.1:n.6+199T>C
XR_002958056.1:n.780T>C
NM_000023.4:c.262T>C MANE Select	NP_000014.1:p.Phe88Leu
NM_001135697.3:c.262T>C	NP_001129169.1:p.Phe88Leu
NR_135553.2:n.298T>C