Canonical Allele Identifier: CA10691229
Gene: SELP HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169630016T>C , CM000663.2:g.169630016T>C GRCh38
NC_000001.10:g.169599254T>C , CM000663.1:g.169599254T>C GRCh37
NC_000001.9:g.167865878T>C NCBI36
NG_012125.1:g.5124A>G
NG_012125.2:g.5124A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263686.11:c.3+56A>G MANE Select ENSP00000263686.5:n.3+56A>G
ENST00000263686.10:c.3+56A>G ENSP00000263686.5:n.3+56A>G
ENST00000367786.6:c.3+56A>G ENSP00000356760.1:n.3+56A>G
ENST00000367788.6:c.3+56A>G ENSP00000356762.1:n.3+56A>G
ENST00000367795.2:c.3+56A>G ENSP00000356769.2:n.3+56A>G
ENST00000458599.6:c.3+56A>G ENSP00000399368.2:n.3+56A>G
NM_003005.3:c.3+56A>G NP_002996.2:n.3+56A>G
XM_005245435.1:c.3+56A>G XP_005245492.1:n.3+56A>G
XM_005245436.2:c.3+56A>G XP_005245493.1:n.3+56A>G
XM_005245438.1:c.3+56A>G XP_005245495.1:n.3+56A>G
XM_005245439.1:c.3+56A>G XP_005245496.1:n.3+56A>G
XM_005245440.1:c.3+56A>G XP_005245497.1:n.3+56A>G
XM_005245435.2:c.3+56A>G XP_005245492.1:n.3+56A>G
XM_005245436.4:c.3+56A>G XP_005245493.1:n.3+56A>G
XM_005245438.2:c.3+56A>G XP_005245495.1:n.3+56A>G
XM_005245439.2:c.3+56A>G XP_005245496.1:n.3+56A>G
XM_005245440.2:c.3+56A>G XP_005245497.1:n.3+56A>G
NM_003005.4:c.3+56A>G MANE Select NP_002996.2:n.3+56A>G