Canonical Allele Identifier: CA178063

Gene: STRC

Linked Data

• ClinVar Variation Id: 165320
• ClinVar RCV Id: RCV000151959 ; RCV001333007 ; RCV001753537
• dbSNP Id: rs727503449
• ExAC: 15:43903434 C / T
• gnomAD v2: 15-43903434-C-T
• gnomAD v3: 15-43611236-C-T
• gnomAD v4: 15-43611236-C-T
• MyVariant Identifiers: chr15:g.43903434C>T (hg19) ; chr15:g.43611236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43611236C>T , CM000677.2:g.43611236C>T	GRCh38
NC_000015.9:g.43903434C>T , CM000677.1:g.43903434C>T	GRCh37
NC_000015.8:g.41690726C>T	NCBI36
NG_011636.1:g.12565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.3218G>A MANE Select	ENSP00000401513.2:p.Arg1073Gln
ENST00000428650.5:c.*250G>A	ENSP00000415991.1:n.*250G>A
ENST00000440125.5:c.*1215+263G>A	ENSP00000394866.1:n.*1215+263G>A
ENST00000448437.6:n.445G>A
ENST00000450892.6:c.3218G>A	ENSP00000401513.2:p.Arg1073Gln
ENST00000455136.5:c.529+263G>A
ENST00000470279.1:n.532G>A
ENST00000471703.5:n.357G>A
ENST00000483250.5:n.529G>A
ENST00000485556.5:n.588G>A
ENST00000541030.5:c.1104+263G>A	ENSP00000440413.1:n.1104+263G>A
NM_153700.2:c.3218G>A MANE Select	NP_714544.1:p.Arg1073Gln
XM_011521277.1:c.3707G>A	XP_011519579.1:p.Arg1236Gln
XM_011521278.1:c.3320G>A	XP_011519580.1:p.Arg1107Gln
XM_011521279.1:c.3320G>A	XP_011519581.1:p.Arg1107Gln