Canonical Allele Identifier: CA719620048

Gene: GSG1L

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28041642T>G , CM000678.2:g.28041642T>G	GRCh38
NC_000016.9:g.28052963T>G , CM000678.1:g.28052963T>G	GRCh37
NC_000016.8:g.27960464T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447459.7:c.349+21434A>C MANE Select	ENSP00000394954.2:n.349+21434A>C
ENST00000395724.7:c.349+21434A>C	ENSP00000379074.3:n.349+21434A>C
ENST00000447459.6:c.349+21434A>C	ENSP00000394954.2:n.349+21434A>C
ENST00000562611.1:c.113+21434A>C
NM_001109763.1:c.349+21434A>C	NP_001103233.1:n.349+21434A>C
XM_011545749.1:c.349+21434A>C	XP_011544051.1:n.349+21434A>C
XM_011545750.1:c.349+21434A>C	XP_011544052.1:n.349+21434A>C
XM_011545751.1:c.349+21434A>C	XP_011544053.1:n.349+21434A>C
NM_001323900.1:c.349+21434A>C	NP_001310829.1:n.349+21434A>C
NM_001323901.1:c.349+21434A>C	NP_001310830.1:n.349+21434A>C
XM_011545750.2:c.349+21434A>C	XP_011544052.1:n.349+21434A>C
XM_011545751.2:c.349+21434A>C	XP_011544053.1:n.349+21434A>C
NM_001109763.2:c.349+21434A>C MANE Select	NP_001103233.1:n.349+21434A>C
NM_001323900.2:c.349+21434A>C	NP_001310829.1:n.349+21434A>C
NM_001323901.2:c.349+21434A>C	NP_001310830.1:n.349+21434A>C