Canonical Allele Identifier: CA2675505125

Gene: SIL1

Linked Data

• gnomAD v4: 5-139050811-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139050811T>C , CM000667.2:g.139050811T>C	GRCh38
NC_000005.9:g.138386500T>C , CM000667.1:g.138386500T>C	GRCh37
NC_000005.8:g.138414399T>C	NCBI36
NG_008112.1:g.152566A>G
NG_008112.2:g.152566A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.353+127A>G MANE Select	ENSP00000378294.2:n.353+127A>G
ENST00000265195.9:c.353+127A>G	ENSP00000265195.5:n.353+127A>G
ENST00000394817.6:c.353+127A>G	ENSP00000378294.2:n.353+127A>G
ENST00000503732.1:n.180+127A>G
ENST00000508639.5:c.353+127A>G	ENSP00000427371.1:n.353+127A>G
ENST00000509534.5:c.374+127A>G	ENSP00000426858.1:n.374+127A>G
ENST00000513453.5:c.353+127A>G	ENSP00000424014.1:n.353+127A>G
NM_001037633.1:c.353+127A>G	NP_001032722.1:n.353+127A>G
NM_022464.4:c.353+127A>G	NP_071909.1:n.353+127A>G
XM_011543570.1:c.383+127A>G	XP_011541872.1:n.383+127A>G
XM_011543570.2:c.383+127A>G	XP_011541872.1:n.383+127A>G
XM_024446164.1:c.353+127A>G	XP_024301932.1:n.353+127A>G
NM_022464.5:c.353+127A>G MANE Select	NP_071909.1:n.353+127A>G
NM_001037633.2:c.353+127A>G	NP_001032722.1:n.353+127A>G