Canonical Allele Identifier: CA3947146

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354890
• ClinVar RCV Id: RCV000321918 ; RCV000917204 ; RCV003922566
• dbSNP Id: rs61733387
• ExAC: 6:108194017 A / G
• gnomAD v2: 6-108194017-A-G
• gnomAD v3: 6-107872813-A-G
• gnomAD v4: 6-107872813-A-G
• MyVariant Identifiers: chr6:g.108194017A>G (hg19) ; chr6:g.107872813A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107872813A>G , CM000668.2:g.107872813A>G	GRCh38
NC_000006.11:g.108194017A>G , CM000668.1:g.108194017A>G	GRCh37
NC_000006.10:g.108300710A>G	NCBI36
NG_008270.1:g.90466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.2134T>C MANE Select	ENSP00000357998.4:p.Leu712=
ENST00000369002.8:c.2134T>C	ENSP00000357998.4:p.Leu712=
ENST00000459782.1:n.937T>C
NM_007214.4:c.2134T>C	NP_009145.1:p.Leu712=
XM_011535399.1:c.1966T>C	XP_011533701.1:p.Leu656=
XM_017010218.2:c.1036T>C	XP_016865707.1:p.Leu346=
NM_007214.5:c.2134T>C MANE Select	NP_009145.1:p.Leu712=