Canonical Allele Identifier: CA400179859

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245779G>C (hg19) ; chr17:g.50168418G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168418G>C , CM000679.2:g.50168418G>C	GRCh38
NC_000017.10:g.48245779G>C , CM000679.1:g.48245779G>C	GRCh37
NC_000017.9:g.45600778G>C	NCBI36
NG_008889.1:g.7414G>C , LRG_203:g.7414G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.430G>C	ENSP00000422030.2:p.Asp144His
ENST00000511303.6:n.155G>C
ENST00000512526.2:c.421G>C	ENSP00000426606.2:n.421G>C
ENST00000682109.1:c.310G>C	ENSP00000508041.1:p.Asp104His
ENST00000683226.1:n.140G>C
ENST00000683294.1:c.430G>C	ENSP00000508134.1:p.Asp144His
ENST00000262018.8:c.430G>C MANE Select	ENSP00000262018.3:p.Asp144His
ENST00000262018.7:c.430G>C	ENSP00000262018.3:p.Asp144His
ENST00000344627.10:c.430G>C	ENSP00000345522.6:p.Asp144His
ENST00000502555.5:c.*89G>C	ENSP00000422817.1:n.*89G>C
ENST00000511303.5:c.151G>C	ENSP00000426104.1:p.Asp51His
ENST00000512526.1:c.265G>C
ENST00000513821.5:c.430G>C	ENSP00000426571.1:p.Asp144His
ENST00000513942.5:n.221G>C
ENST00000514934.1:c.*136G>C	ENSP00000423168.1:n.*136G>C
NM_000023.2:c.430G>C , LRG_203t1:c.430G>C	NP_000014.1:p.Asp144His
NM_001135697.1:c.430G>C	NP_001129169.1:p.Asp144His
XM_011525120.1:c.430G>C	XP_011523422.1:p.Asp144His
XM_011525121.1:c.430G>C	XP_011523423.1:p.Asp144His
XM_011525122.1:c.430G>C	XP_011523424.1:p.Asp144His
XM_011525123.1:c.430G>C	XP_011523425.1:p.Asp144His
XM_011525124.1:c.124G>C	XP_011523426.1:p.Asp42His
XR_934517.1:n.496G>C
NM_000023.3:c.430G>C	NP_000014.1:p.Asp144His
NM_001135697.2:c.430G>C	NP_001129169.1:p.Asp144His
NR_135553.1:n.486G>C
XM_011525120.2:c.592G>C	XP_011523422.2:p.Asp198His
XM_011525121.2:c.592G>C	XP_011523423.2:p.Asp198His
XM_011525122.2:c.592G>C	XP_011523424.2:p.Asp198His
XM_011525123.2:c.592G>C	XP_011523425.2:p.Asp198His
XM_011525124.2:c.124G>C	XP_011523426.1:p.Asp42His
XM_024450873.1:c.124G>C	XP_024306641.1:p.Asp42His
XR_002958056.1:n.948G>C
NM_000023.4:c.430G>C MANE Select	NP_000014.1:p.Asp144His
NM_001135697.3:c.430G>C	NP_001129169.1:p.Asp144His
NR_135553.2:n.466G>C