Canonical Allele Identifier: CA2838400121
Gene: SND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.127854799A>G , CM000669.2:g.127854799A>G GRCh38
NC_000007.13:g.127494852A>G , CM000669.1:g.127494852A>G GRCh37
NC_000007.12:g.127282088A>G NCBI36
NG_051199.1:g.207811A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354725.8:c.1343+10375A>G MANE Select ENSP00000346762.3:n.1343+10375A>G
ENST00000354725.7:c.1343+10375A>G ENSP00000346762.3:n.1343+10375A>G
ENST00000465900.5:n.406+10375A>G
ENST00000468166.5:n.504+10375A>G
NM_014390.2:c.1343+10375A>G NP_055205.2:n.1343+10375A>G
XM_011516051.1:c.1343+10375A>G XP_011514353.1:n.1343+10375A>G
NM_014390.3:c.1343+10375A>G NP_055205.2:n.1343+10375A>G
XM_017011987.2:c.1343+10375A>G XP_016867476.1:n.1343+10375A>G
NM_014390.4:c.1343+10375A>G MANE Select NP_055205.2:n.1343+10375A>G