Canonical Allele Identifier: CA3947375
Gene: SEC63 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.107893901G>C , CM000668.2:g.107893901G>C GRCh38
NC_000006.11:g.108215105G>C , CM000668.1:g.108215105G>C GRCh37
NC_000006.10:g.108321798G>C NCBI36
NG_008270.1:g.69378C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369002.9:c.1441-4C>G MANE Select ENSP00000357998.4:n.1441-4C>G
ENST00000369002.8:c.1441-4C>G ENSP00000357998.4:n.1441-4C>G
ENST00000466419.1:n.289-4C>G
NM_007214.4:c.1441-4C>G NP_009145.1:n.1441-4C>G
XM_011535399.1:c.1273-4C>G XP_011533701.1:n.1273-4C>G
XM_017010218.2:c.343-4C>G XP_016865707.1:n.343-4C>G
NM_007214.5:c.1441-4C>G MANE Select NP_009145.1:n.1441-4C>G