Canonical Allele Identifier: CA804898316

Gene: SPRY4

Linked Data

• dbSNP Id: rs1216039217
• gnomAD v4: 5-142314170-A-C
• MyVariant Identifiers: chr5:g.141693735A>C (hg19) ; chr5:g.142314170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.142314170A>C , CM000667.2:g.142314170A>C	GRCh38
NC_000005.9:g.141693735A>C , CM000667.1:g.141693735A>C	GRCh37
NC_000005.8:g.141673919A>C	NCBI36
NG_034148.1:g.15886T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434127.3:c.*39T>G MANE Select	ENSP00000399468.2:n.*39T>G
ENST00000643792.1:n.1621T>G
ENST00000344120.4:c.*39T>G	ENSP00000344967.4:n.*39T>G
ENST00000434127.2:c.*39T>G	ENSP00000399468.2:n.*39T>G
NM_001127496.1:c.*39T>G	NP_001120968.1:n.*39T>G
NM_001293289.1:c.*39T>G	NP_001280218.1:n.*39T>G
NM_001293290.1:c.*39T>G	NP_001280219.1:n.*39T>G
NM_030964.3:c.*39T>G	NP_112226.2:n.*39T>G
XM_011537685.1:c.*39T>G	XP_011535987.1:n.*39T>G
XM_011537685.3:c.*39T>G	XP_011535987.1:n.*39T>G
XM_017009910.2:c.*39T>G	XP_016865399.1:n.*39T>G
NM_001127496.2:c.*39T>G	NP_001120968.1:n.*39T>G
NM_001293289.2:c.*39T>G	NP_001280218.1:n.*39T>G
NM_001293290.2:c.*39T>G	NP_001280219.1:n.*39T>G
NM_030964.4:c.*39T>G	NP_112226.2:n.*39T>G
NM_001127496.3:c.*39T>G MANE Select	NP_001120968.1:n.*39T>G
NM_001293289.3:c.*39T>G	NP_001280218.1:n.*39T>G
NM_001293290.3:c.*39T>G	NP_001280219.1:n.*39T>G
NM_030964.5:c.*39T>G	NP_112226.2:n.*39T>G