Canonical Allele Identifier: CA4316240
Community Standard Title: NM_006379.5(SEMA3C):c.1009G>A (p.Val337Met)
Gene: SEMA3C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.80798214C>T , CM000669.2:g.80798214C>T GRCh38
NC_000007.13:g.80427530C>T , CM000669.1:g.80427530C>T GRCh37
NC_000007.12:g.80265466C>T NCBI36
NG_054744.1:g.129166G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006379.5:c.1009G>A MANE Select NP_006370.1:p.Val337Met
ENST00000265361.8:c.1009G>A MANE Select ENSP00000265361.3:p.Val337Met
NM_001350120.1:c.1063G>A NP_001337049.1:p.Val355Met
NM_001350120.2:c.1063G>A NP_001337049.1:p.Val355Met
NM_001350121.1:c.835G>A NP_001337050.1:p.Val279Met
NM_001350121.2:c.835G>A NP_001337050.1:p.Val279Met
NM_006379.3:c.1009G>A NP_006370.1:p.Val337Met
NM_006379.4:c.1009G>A NP_006370.1:p.Val337Met
ENST00000265361.7:c.1009G>A ENSP00000265361.3:p.Val337Met
ENST00000419255.6:c.1009G>A ENSP00000411193.2:p.Val337Met
ENST00000458729.5:c.*542G>A ENSP00000393825.1:n.*542G>A
ENST00000475955.1:n.25G>A
XM_005250113.1:c.835G>A XP_005250170.1:p.Val279Met