Canonical Allele Identifier: CA2277146

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs768877292
• ExAC: 3:15643264 C / G
• gnomAD v2: 3-15643264-C-G
• gnomAD v4: 3-15601757-C-G
• MyVariant Identifiers: chr3:g.15643264C>G (hg19) ; chr3:g.15601757C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601757C>G , CM000665.2:g.15601757C>G	GRCh38
NC_000003.11:g.15643264C>G , CM000665.1:g.15643264C>G	GRCh37
NC_000003.10:g.15618268C>G	NCBI36
NG_008019.1:g.5010C>G
NG_008019.2:g.5406C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-154C>G (BTD)	ENSP00000500069.2:n.-154C>G
ENST00000672892.2:c.-154C>G (BTD)	ENSP00000499944.2:n.-154C>G
ENST00000303498.10:c.-430C>G (BTD)	ENSP00000306477.6:n.-430C>G
ENST00000417015.3:c.-154C>G (BTD)	ENSP00000403775.3:n.-154C>G
ENST00000427382.2:c.-17+110C>G (BTD)	ENSP00000397113.2:n.-17+110C>G
ENST00000449107.7:c.-30C>G (BTD)	ENSP00000388212.2:n.-30C>G
ENST00000643237.3:c.-154C>G (BTD) MANE Select	ENSP00000495254.2:n.-154C>G
ENST00000646371.1:c.-306C>G (BTD)	ENSP00000495866.1:n.-306C>G
ENST00000672065.1:c.-94C>G (BTD)	ENSP00000500403.1:n.-94C>G
ENST00000672112.1:c.-276C>G (BTD)	ENSP00000500193.1:n.-276C>G
ENST00000672141.1:c.-154C>G (BTD)	ENSP00000500210.1:n.-154C>G
ENST00000672968.1:n.7C>G (BTD)
ENST00000673620.1:c.-30C>G (BTD)	ENSP00000500325.1:n.-30C>G
ENST00000303498.9:c.-94C>G (BTD)	ENSP00000306477.5:n.-94C>G
ENST00000321169.9:c.-294G>C (HACL1)	ENSP00000323811.5:n.-294G>C
ENST00000417015.1:c.*158C>G (BTD)	ENSP00000403775.1:n.*158C>G
ENST00000427382.1:c.-17+110C>G (BTD)	ENSP00000397113.1:n.-17+110C>G
ENST00000449107.5:c.37C>G (BTD)	ENSP00000388212.1:p.Pro13Ala
ENST00000480711.1:n.10C>G (BTD)
ENST00000494021.1:n.388C>G (BTD)
ENST00000628377.2:c.-294G>C (HACL1)	ENSP00000486684.1:n.-294G>C
NM_000060.3:c.-94C>G (BTD)	NP_000051.1:n.-94C>G
NM_001281723.1:c.37C>G (BTD)	NP_001268652.1:p.Pro13Ala
NM_001281724.1:c.-276C>G (BTD)	NP_001268653.1:n.-276C>G
NM_001281726.1:c.-94C>G (BTD)	NP_001268655.1:n.-94C>G
NM_001284413.1:c.-294G>C (HACL1)	NP_001271342.1:n.-294G>C
NM_001284415.1:c.-294G>C (HACL1)	NP_001271344.1:n.-294G>C
NM_001284416.1:c.-294G>C (HACL1)	NP_001271345.1:n.-294G>C
NM_012260.3:c.-294G>C (HACL1)	NP_036392.2:n.-294G>C
NR_104315.1:n.96G>C (HACL1)
NM_000060.4:c.-94C>G (BTD)	NP_000051.1:n.-94C>G
NM_001281723.2:c.37C>G (BTD)	NP_001268652.1:p.Pro13Ala
NM_001281724.2:c.-276C>G (BTD)	NP_001268653.1:n.-276C>G
NM_001323582.1:c.-430C>G (BTD)	NP_001310511.1:n.-430C>G
NM_001281723.3:c.-30C>G (BTD)	NP_001268652.2:n.-30C>G
NM_001281724.3:c.-342C>G (BTD)	NP_001268653.2:n.-342C>G
NM_001370658.1:c.-154C>G (BTD) MANE Select	NP_001357587.1:n.-154C>G
NM_001370752.1:c.-154C>G (BTD)	NP_001357681.1:n.-154C>G
NM_001370753.1:c.-154C>G (BTD)	NP_001357682.1:n.-154C>G
NM_001281726.2:c.-154C>G (BTD)	NP_001268655.2:n.-154C>G