Canonical Allele Identifier: CA500828529
Gene: SGCA HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48245868C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168507C>G , CM000679.2:g.50168507C>G GRCh38
NC_000017.10:g.48245868C>G , CM000679.1:g.48245868C>G GRCh37
NC_000017.9:g.45600867C>G NCBI36
NG_008889.1:g.7503C>G , LRG_203:g.7503C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.519C>G ENSP00000422030.2:p.Leu173=
ENST00000511303.6:n.244C>G
ENST00000512526.2:c.510C>G ENSP00000426606.2:n.510C>G
ENST00000682109.1:c.399C>G ENSP00000508041.1:p.Leu133=
ENST00000683226.1:n.229C>G
ENST00000683294.1:c.519C>G ENSP00000508134.1:p.Leu173=
ENST00000262018.8:c.519C>G MANE Select ENSP00000262018.3:p.Leu173=
ENST00000262018.7:c.519C>G ENSP00000262018.3:p.Leu173=
ENST00000344627.10:c.519C>G ENSP00000345522.6:p.Leu173=
ENST00000502555.5:c.*178C>G ENSP00000422817.1:n.*178C>G
ENST00000511303.5:c.240C>G ENSP00000426104.1:p.Leu80=
ENST00000512526.1:c.354C>G
ENST00000513821.5:c.519C>G ENSP00000426571.1:p.Leu173=
ENST00000513942.5:n.310C>G
ENST00000514934.1:c.*225C>G ENSP00000423168.1:n.*225C>G
NM_000023.2:c.519C>G , LRG_203t1:c.519C>G NP_000014.1:p.Leu173=
NM_001135697.1:c.519C>G NP_001129169.1:p.Leu173=
XM_011525120.1:c.519C>G XP_011523422.1:p.Leu173=
XM_011525121.1:c.519C>G XP_011523423.1:p.Leu173=
XM_011525122.1:c.519C>G XP_011523424.1:p.Leu173=
XM_011525123.1:c.519C>G XP_011523425.1:p.Leu173=
XM_011525124.1:c.213C>G XP_011523426.1:p.Leu71=
XR_934517.1:n.585C>G
NM_000023.3:c.519C>G NP_000014.1:p.Leu173=
NM_001135697.2:c.519C>G NP_001129169.1:p.Leu173=
NR_135553.1:n.575C>G
XM_011525120.2:c.681C>G XP_011523422.2:p.Leu227=
XM_011525121.2:c.681C>G XP_011523423.2:p.Leu227=
XM_011525122.2:c.681C>G XP_011523424.2:p.Leu227=
XM_011525123.2:c.681C>G XP_011523425.2:p.Leu227=
XM_011525124.2:c.213C>G XP_011523426.1:p.Leu71=
XM_024450873.1:c.213C>G XP_024306641.1:p.Leu71=
XR_002958056.1:n.1037C>G
NM_000023.4:c.519C>G MANE Select NP_000014.1:p.Leu173=
NM_001135697.3:c.519C>G NP_001129169.1:p.Leu173=
NR_135553.2:n.555C>G