Canonical Allele Identifier: CA361599263

Gene: SPRY4

Linked Data

• gnomAD v4: 5-142314270-C-T
• MyVariant Identifiers: chr5:g.141693835C>T (hg19) ; chr5:g.142314270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.142314270C>T , CM000667.2:g.142314270C>T	GRCh38
NC_000005.9:g.141693835C>T , CM000667.1:g.141693835C>T	GRCh37
NC_000005.8:g.141674019C>T	NCBI36
NG_034148.1:g.15786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434127.3:c.839G>A MANE Select	ENSP00000399468.2:p.Ser280Asn
ENST00000643792.1:n.1521G>A
ENST00000344120.4:c.908G>A	ENSP00000344967.4:p.Ser303Asn
ENST00000434127.2:c.839G>A	ENSP00000399468.2:p.Ser280Asn
NM_001127496.1:c.839G>A	NP_001120968.1:p.Ser280Asn
NM_001293289.1:c.839G>A	NP_001280218.1:p.Ser280Asn
NM_001293290.1:c.839G>A	NP_001280219.1:p.Ser280Asn
NM_030964.3:c.908G>A	NP_112226.2:p.Ser303Asn
XM_011537685.1:c.908G>A	XP_011535987.1:p.Ser303Asn
XM_011537685.3:c.908G>A	XP_011535987.1:p.Ser303Asn
XM_017009910.2:c.839G>A	XP_016865399.1:p.Ser280Asn
NM_001127496.2:c.839G>A	NP_001120968.1:p.Ser280Asn
NM_001293289.2:c.839G>A	NP_001280218.1:p.Ser280Asn
NM_001293290.2:c.839G>A	NP_001280219.1:p.Ser280Asn
NM_030964.4:c.908G>A	NP_112226.2:p.Ser303Asn
NM_001127496.3:c.839G>A MANE Select	NP_001120968.1:p.Ser280Asn
NM_001293289.3:c.839G>A	NP_001280218.1:p.Ser280Asn
NM_001293290.3:c.839G>A	NP_001280219.1:p.Ser280Asn
NM_030964.5:c.908G>A	NP_112226.2:p.Ser303Asn