Canonical Allele Identifier: CA2638703508
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167490G>A , CM000679.2:g.50167490G>A GRCh38
NC_000017.10:g.48244851G>A , CM000679.1:g.48244851G>A GRCh37
NC_000017.9:g.45599850G>A NCBI36
NG_008889.1:g.6486G>A , LRG_203:g.6486G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.157+3G>A ENSP00000422030.2:n.157+3G>A
ENST00000511303.6:n.38-457G>A
ENST00000512526.2:c.157+3G>A ENSP00000426606.2:n.157+3G>A
ENST00000682109.1:c.38-92G>A ENSP00000508041.1:n.38-92G>A
ENST00000683294.1:c.157+3G>A ENSP00000508134.1:n.157+3G>A
ENST00000262018.8:c.157+3G>A MANE Select ENSP00000262018.3:n.157+3G>A
ENST00000262018.7:c.157+3G>A ENSP00000262018.3:n.157+3G>A
ENST00000344627.10:c.157+3G>A ENSP00000345522.6:n.157+3G>A
ENST00000502555.5:c.157+3G>A ENSP00000422817.1:n.157+3G>A
ENST00000511303.5:c.34-457G>A ENSP00000426104.1:n.34-457G>A
ENST00000513821.5:c.157+3G>A ENSP00000426571.1:n.157+3G>A
ENST00000513942.5:n.104-457G>A
ENST00000514934.1:c.*18+3G>A ENSP00000423168.1:n.*18+3G>A
NM_000023.2:c.157+3G>A , LRG_203t1:c.157+3G>A NP_000014.1:n.157+3G>A
NM_001135697.1:c.157+3G>A NP_001129169.1:n.157+3G>A
XM_011525120.1:c.157+3G>A XP_011523422.1:n.157+3G>A
XM_011525121.1:c.157+3G>A XP_011523423.1:n.157+3G>A
XM_011525122.1:c.157+3G>A XP_011523424.1:n.157+3G>A
XM_011525123.1:c.157+3G>A XP_011523425.1:n.157+3G>A
XM_011525124.1:c.6+3G>A XP_011523426.1:n.6+3G>A
XR_934517.1:n.223+3G>A
NM_000023.3:c.157+3G>A NP_000014.1:n.157+3G>A
NM_001135697.2:c.157+3G>A NP_001129169.1:n.157+3G>A
NR_135553.1:n.213+3G>A
XM_011525120.2:c.319+3G>A XP_011523422.2:n.319+3G>A
XM_011525121.2:c.319+3G>A XP_011523423.2:n.319+3G>A
XM_011525122.2:c.319+3G>A XP_011523424.2:n.319+3G>A
XM_011525123.2:c.319+3G>A XP_011523425.2:n.319+3G>A
XM_011525124.2:c.6+3G>A XP_011523426.1:n.6+3G>A
XM_024450873.1:c.6+3G>A XP_024306641.1:n.6+3G>A
XR_002958056.1:n.675+3G>A
NM_000023.4:c.157+3G>A MANE Select NP_000014.1:n.157+3G>A
NM_001135697.3:c.157+3G>A NP_001129169.1:n.157+3G>A
NR_135553.2:n.193+3G>A