Canonical Allele Identifier: CA400179836

Gene: SGCA

Linked Data

• dbSNP Id: rs1387869995
• gnomAD v2: 17-48245768-T-C
• gnomAD v4: 17-50168407-T-C
• MyVariant Identifiers: chr17:g.48245768T>C (hg19) ; chr17:g.50168407T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168407T>C , CM000679.2:g.50168407T>C	GRCh38
NC_000017.10:g.48245768T>C , CM000679.1:g.48245768T>C	GRCh37
NC_000017.9:g.45600767T>C	NCBI36
NG_008889.1:g.7403T>C , LRG_203:g.7403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.419T>C	ENSP00000422030.2:p.Val140Ala
ENST00000511303.6:n.144T>C
ENST00000512526.2:c.410T>C	ENSP00000426606.2:n.410T>C
ENST00000682109.1:c.299T>C	ENSP00000508041.1:p.Val100Ala
ENST00000683226.1:n.129T>C
ENST00000683294.1:c.419T>C	ENSP00000508134.1:p.Val140Ala
ENST00000262018.8:c.419T>C MANE Select	ENSP00000262018.3:p.Val140Ala
ENST00000262018.7:c.419T>C	ENSP00000262018.3:p.Val140Ala
ENST00000344627.10:c.419T>C	ENSP00000345522.6:p.Val140Ala
ENST00000502555.5:c.*78T>C	ENSP00000422817.1:n.*78T>C
ENST00000511303.5:c.140T>C	ENSP00000426104.1:p.Val47Ala
ENST00000512526.1:c.254T>C
ENST00000513821.5:c.419T>C	ENSP00000426571.1:p.Val140Ala
ENST00000513942.5:n.210T>C
ENST00000514934.1:c.*125T>C	ENSP00000423168.1:n.*125T>C
NM_000023.2:c.419T>C , LRG_203t1:c.419T>C	NP_000014.1:p.Val140Ala
NM_001135697.1:c.419T>C	NP_001129169.1:p.Val140Ala
XM_011525120.1:c.419T>C	XP_011523422.1:p.Val140Ala
XM_011525121.1:c.419T>C	XP_011523423.1:p.Val140Ala
XM_011525122.1:c.419T>C	XP_011523424.1:p.Val140Ala
XM_011525123.1:c.419T>C	XP_011523425.1:p.Val140Ala
XM_011525124.1:c.113T>C	XP_011523426.1:p.Val38Ala
XR_934517.1:n.485T>C
NM_000023.3:c.419T>C	NP_000014.1:p.Val140Ala
NM_001135697.2:c.419T>C	NP_001129169.1:p.Val140Ala
NR_135553.1:n.475T>C
XM_011525120.2:c.581T>C	XP_011523422.2:p.Val194Ala
XM_011525121.2:c.581T>C	XP_011523423.2:p.Val194Ala
XM_011525122.2:c.581T>C	XP_011523424.2:p.Val194Ala
XM_011525123.2:c.581T>C	XP_011523425.2:p.Val194Ala
XM_011525124.2:c.113T>C	XP_011523426.1:p.Val38Ala
XM_024450873.1:c.113T>C	XP_024306641.1:p.Val38Ala
XR_002958056.1:n.937T>C
NM_000023.4:c.419T>C MANE Select	NP_000014.1:p.Val140Ala
NM_001135697.3:c.419T>C	NP_001129169.1:p.Val140Ala
NR_135553.2:n.455T>C