Canonical Allele Identifier: CA824446681

Gene: BTBD9

Linked Data

• dbSNP Id: rs1290949985
• gnomAD v3: 6-38398216-A-C
• gnomAD v4: 6-38398216-A-C
• MyVariant Identifiers: chr6:g.38365992A>C (hg19) ; chr6:g.38398216A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38398216A>C , CM000668.2:g.38398216A>C	GRCh38
NC_000006.11:g.38365992A>C , CM000668.1:g.38365992A>C	GRCh37
NC_000006.10:g.38473970A>C	NCBI36
NG_016545.1:g.246933T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481247.6:c.1155-53123T>G MANE Select	ENSP00000418751.1:n.1155-53123T>G
ENST00000649492.1:c.1155-53123T>G	ENSP00000497066.1:n.1155-53123T>G
ENST00000314100.10:c.951-53123T>G	ENSP00000323408.6:n.951-53123T>G
ENST00000328403.10:c.*63-53123T>G	ENSP00000328328.6:n.*63-53123T>G
ENST00000419706.6:c.1064+4601T>G	ENSP00000415365.2:n.1064+4601T>G
ENST00000481247.5:c.1155-53123T>G	ENSP00000418751.1:n.1155-53123T>G
NM_001099272.1:c.1155-53123T>G	NP_001092742.1:n.1155-53123T>G
NM_001172418.1:c.1064+4601T>G	NP_001165889.1:n.1064+4601T>G
NM_052893.1:c.1155-53123T>G	NP_443125.1:n.1155-53123T>G
NM_152733.2:c.951-53123T>G	NP_689946.2:n.951-53123T>G
XM_005248841.2:c.1155-53123T>G	XP_005248898.1:n.1155-53123T>G
XM_011514279.1:c.1155-53123T>G	XP_011512581.1:n.1155-53123T>G
XM_011514281.1:c.1155-52946T>G	XP_011512583.1:n.1155-52946T>G
XM_011514279.3:c.1155-53123T>G	XP_011512581.1:n.1155-53123T>G
XM_011514281.3:c.1155-52946T>G	XP_011512583.1:n.1155-52946T>G
NM_001099272.2:c.1155-53123T>G MANE Select	NP_001092742.1:n.1155-53123T>G
NM_052893.2:c.1155-53123T>G	NP_443125.1:n.1155-53123T>G
NM_001172418.2:c.1064+4601T>G	NP_001165889.1:n.1064+4601T>G
NM_152733.3:c.951-53123T>G	NP_689946.2:n.951-53123T>G