Canonical Allele Identifier: CA793371403

Gene: SEL1L3

Linked Data

• dbSNP Id: rs1431527168
• MyVariant Identifiers: chr4:g.25810127A>G (hg19) ; chr4:g.25808505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25808505A>G , CM000666.2:g.25808505A>G	GRCh38
NC_000004.11:g.25810127A>G , CM000666.1:g.25810127A>G	GRCh37
NC_000004.10:g.25419225A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000399878.8:c.1565-3753T>C MANE Select	ENSP00000382767.3:n.1565-3753T>C
ENST00000264868.9:c.1460-3753T>C	ENSP00000264868.5:n.1460-3753T>C
ENST00000399878.7:c.1565-3753T>C	ENSP00000382767.3:n.1565-3753T>C
ENST00000502949.5:c.1106-3753T>C	ENSP00000425438.1:n.1106-3753T>C
NM_001297592.1:c.1460-3753T>C	NP_001284521.1:n.1460-3753T>C
NM_001297594.1:c.1106-3753T>C	NP_001284523.1:n.1106-3753T>C
NM_015187.4:c.1565-3753T>C	NP_056002.2:n.1565-3753T>C
XM_011513818.1:c.1106-3753T>C	XP_011512120.1:n.1106-3753T>C
XM_011513819.1:c.1106-3753T>C	XP_011512121.1:n.1106-3753T>C
XM_011513820.1:c.1106-3753T>C	XP_011512122.1:n.1106-3753T>C
XM_011513819.2:c.1565-3753T>C	XP_011512121.2:n.1565-3753T>C
XM_024453953.1:c.1106-3753T>C	XP_024309721.1:n.1106-3753T>C
XM_024453954.1:c.1106-3753T>C	XP_024309722.1:n.1106-3753T>C
XM_024453955.1:c.1106-3753T>C	XP_024309723.1:n.1106-3753T>C
XR_001741182.2:n.1507-3753T>C
NM_015187.5:c.1565-3753T>C MANE Select	NP_056002.2:n.1565-3753T>C
NM_001297592.2:c.1460-3753T>C	NP_001284521.1:n.1460-3753T>C
NM_001297594.2:c.1106-3753T>C	NP_001284523.1:n.1106-3753T>C