Canonical Allele Identifier: CA1155560
Community Standard Title: NM_022367.4(SEMA4A):c.2249A>T (p.Asp750Val)
Gene: SEMA4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156176960A>T , CM000663.2:g.156176960A>T GRCh38
NC_000001.10:g.156146751A>T , CM000663.1:g.156146751A>T GRCh37
NC_000001.9:g.154413375A>T NCBI36
NG_027683.1:g.32017A>T

Transcript Alleles

HGVS Amino-acid Change
NM_022367.4:c.2249A>T MANE Select NP_071762.2:p.Asp750Val
ENST00000368285.8:c.2249A>T MANE Select ENSP00000357268.3:p.Asp750Val
NM_001193300.1:c.2249A>T NP_001180229.1:p.Asp750Val
NM_001193300.2:c.2249A>T NP_001180229.1:p.Asp750Val
NM_001193301.1:c.2249A>T NP_001180230.1:p.Asp750Val
NM_001193301.2:c.2249A>T NP_001180230.1:p.Asp750Val
NM_001193302.1:c.1853A>T NP_001180231.1:p.Asp618Val
NM_001193302.2:c.1853A>T NP_001180231.1:p.Asp618Val
NM_001370567.1:c.2249A>T NP_001357496.1:p.Asp750Val
NM_001370568.1:c.1952A>T NP_001357497.1:p.Asp651Val
NM_001370569.1:c.1742A>T NP_001357498.1:p.Asp581Val
NM_001370571.1:c.1742A>T NP_001357500.1:p.Asp581Val
NM_022367.3:c.2249A>T NP_071762.2:p.Asp750Val
ENST00000355014.6:c.2249A>T ENSP00000347117.2:p.Asp750Val
ENST00000368282.1:c.2249A>T ENSP00000357265.1:p.Asp750Val
ENST00000368284.5:c.1853A>T ENSP00000357267.1:p.Asp618Val
ENST00000368285.7:c.2249A>T ENSP00000357268.3:p.Asp750Val
ENST00000368286.6:c.2135A>T ENSP00000357269.3:p.Asp712Val
XM_011509871.1:c.2135A>T XP_011508173.1:p.Asp712Val
XM_011509871.3:c.2135A>T XP_011508173.1:p.Asp712Val
XM_011509872.1:c.2249A>T XP_011508174.1:p.Asp750Val
XM_011509872.2:c.2249A>T XP_011508174.1:p.Asp750Val
XM_011509873.1:c.2249A>T XP_011508175.1:p.Asp750Val
XM_011509873.2:c.2249A>T XP_011508175.1:p.Asp750Val
XM_011509874.1:c.1952A>T XP_011508176.1:p.Asp651Val
XM_011509874.2:c.1952A>T XP_011508176.1:p.Asp651Val
XM_011509875.1:c.1952A>T XP_011508177.1:p.Asp651Val
XM_011509875.3:c.1952A>T XP_011508177.1:p.Asp651Val
XM_011509876.1:c.1952A>T XP_011508178.1:p.Asp651Val
XM_011509876.2:c.1952A>T XP_011508178.1:p.Asp651Val
XM_011509877.1:c.1952A>T XP_011508179.1:p.Asp651Val
XM_011509878.1:c.1952A>T XP_011508180.1:p.Asp651Val
XM_011509878.2:c.1952A>T XP_011508180.1:p.Asp651Val
XM_011509879.1:c.1742A>T XP_011508181.1:p.Asp581Val
XM_011509879.2:c.1742A>T XP_011508181.1:p.Asp581Val
XM_017002056.1:c.2249A>T XP_016857545.1:p.Asp750Val
XM_017002057.1:c.1742A>T XP_016857546.1:p.Asp581Val