Canonical Allele Identifier: CA400176284
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167368T>C , CM000679.2:g.50167368T>C GRCh38
NC_000017.10:g.48244729T>C , CM000679.1:g.48244729T>C GRCh37
NC_000017.9:g.45599728T>C NCBI36
NG_008889.1:g.6364T>C , LRG_203:g.6364T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.38T>C ENSP00000422030.2:p.Val13Ala
ENST00000511303.6:n.38-579T>C
ENST00000512526.2:c.38T>C ENSP00000426606.2:p.Val13Ala
ENST00000682109.1:c.38-214T>C ENSP00000508041.1:n.38-214T>C
ENST00000683294.1:c.38T>C ENSP00000508134.1:p.Val13Ala
ENST00000262018.8:c.38T>C MANE Select ENSP00000262018.3:p.Val13Ala
ENST00000262018.7:c.38T>C ENSP00000262018.3:p.Val13Ala
ENST00000344627.10:c.38T>C ENSP00000345522.6:p.Val13Ala
ENST00000502555.5:c.38T>C ENSP00000422817.1:p.Val13Ala
ENST00000511303.5:c.34-579T>C ENSP00000426104.1:n.34-579T>C
ENST00000513821.5:c.38T>C ENSP00000426571.1:p.Val13Ala
ENST00000513942.5:n.104-579T>C
ENST00000514934.1:c.97T>C ENSP00000423168.1:p.Phe33Leu
NM_000023.2:c.38T>C , LRG_203t1:c.38T>C NP_000014.1:p.Val13Ala
NM_001135697.1:c.38T>C NP_001129169.1:p.Val13Ala
XM_011525120.1:c.38T>C XP_011523422.1:p.Val13Ala
XM_011525121.1:c.38T>C XP_011523423.1:p.Val13Ala
XM_011525122.1:c.38T>C XP_011523424.1:p.Val13Ala
XM_011525123.1:c.38T>C XP_011523425.1:p.Val13Ala
XM_011525124.1:c.-114T>C XP_011523426.1:n.-114T>C
XR_934517.1:n.104T>C
NM_000023.3:c.38T>C NP_000014.1:p.Val13Ala
NM_001135697.2:c.38T>C NP_001129169.1:p.Val13Ala
NR_135553.1:n.94T>C
XM_011525120.2:c.200T>C XP_011523422.2:p.Val67Ala
XM_011525121.2:c.200T>C XP_011523423.2:p.Val67Ala
XM_011525122.2:c.200T>C XP_011523424.2:p.Val67Ala
XM_011525123.2:c.200T>C XP_011523425.2:p.Val67Ala
XM_011525124.2:c.-114T>C XP_011523426.1:n.-114T>C
XM_024450873.1:c.-114T>C XP_024306641.1:n.-114T>C
XR_002958056.1:n.556T>C
NM_000023.4:c.38T>C MANE Select NP_000014.1:p.Val13Ala
NM_001135697.3:c.38T>C NP_001129169.1:p.Val13Ala
NR_135553.2:n.74T>C