Canonical Allele Identifier: CA351610272

Gene: BTD HACL1

Linked Data

• MyVariant Identifiers: chr3:g.15643271A>C (hg19) ; chr3:g.15601764A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601764A>C , CM000665.2:g.15601764A>C	GRCh38
NC_000003.11:g.15643271A>C , CM000665.1:g.15643271A>C	GRCh37
NC_000003.10:g.15618275A>C	NCBI36
NG_008019.1:g.5017A>C
NG_008019.2:g.5413A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-147A>C (BTD)	ENSP00000500069.2:n.-147A>C
ENST00000672892.2:c.-147A>C (BTD)	ENSP00000499944.2:n.-147A>C
ENST00000303498.10:c.-423A>C (BTD)	ENSP00000306477.6:n.-423A>C
ENST00000417015.3:c.-147A>C (BTD)	ENSP00000403775.3:n.-147A>C
ENST00000427382.2:c.-17+117A>C (BTD)	ENSP00000397113.2:n.-17+117A>C
ENST00000449107.7:c.-23A>C (BTD)	ENSP00000388212.2:n.-23A>C
ENST00000467027.6:n.1A>C (BTD)
ENST00000643237.3:c.-147A>C (BTD) MANE Select	ENSP00000495254.2:n.-147A>C
ENST00000646371.1:c.-299A>C (BTD)	ENSP00000495866.1:n.-299A>C
ENST00000672065.1:c.-87A>C (BTD)	ENSP00000500403.1:n.-87A>C
ENST00000672112.1:c.-269A>C (BTD)	ENSP00000500193.1:n.-269A>C
ENST00000672141.1:c.-147A>C (BTD)	ENSP00000500210.1:n.-147A>C
ENST00000672336.1:c.-839A>C (BTD)	ENSP00000500267.1:n.-839A>C
ENST00000672427.1:c.-147A>C (BTD)	ENSP00000500131.1:n.-147A>C
ENST00000672968.1:n.14A>C (BTD)
ENST00000673620.1:c.-23A>C (BTD)	ENSP00000500325.1:n.-23A>C
ENST00000303498.9:c.-87A>C (BTD)	ENSP00000306477.5:n.-87A>C
ENST00000321169.9:c.-301T>G (HACL1)	ENSP00000323811.5:n.-301T>G
ENST00000417015.1:c.*165A>C (BTD)	ENSP00000403775.1:n.*165A>C
ENST00000427382.1:c.-17+117A>C (BTD)	ENSP00000397113.1:n.-17+117A>C
ENST00000449107.5:c.44A>C (BTD)	ENSP00000388212.1:p.Gln15Pro
ENST00000480711.1:n.17A>C (BTD)
ENST00000494021.1:n.395A>C (BTD)
ENST00000628377.2:c.-301T>G (HACL1)	ENSP00000486684.1:n.-301T>G
NM_000060.3:c.-87A>C (BTD)	NP_000051.1:n.-87A>C
NM_001281723.1:c.44A>C (BTD)	NP_001268652.1:p.Gln15Pro
NM_001281724.1:c.-269A>C (BTD)	NP_001268653.1:n.-269A>C
NM_001281726.1:c.-87A>C (BTD)	NP_001268655.1:n.-87A>C
NM_001284413.1:c.-301T>G (HACL1)	NP_001271342.1:n.-301T>G
NM_001284415.1:c.-301T>G (HACL1)	NP_001271344.1:n.-301T>G
NM_001284416.1:c.-301T>G (HACL1)	NP_001271345.1:n.-301T>G
NM_012260.3:c.-301T>G (HACL1)	NP_036392.2:n.-301T>G
NR_104315.1:n.89T>G (HACL1)
NM_000060.4:c.-87A>C (BTD)	NP_000051.1:n.-87A>C
NM_001281723.2:c.44A>C (BTD)	NP_001268652.1:p.Gln15Pro
NM_001281724.2:c.-269A>C (BTD)	NP_001268653.1:n.-269A>C
NM_001323582.1:c.-423A>C (BTD)	NP_001310511.1:n.-423A>C
NM_001281723.3:c.-23A>C (BTD)	NP_001268652.2:n.-23A>C
NM_001281724.3:c.-335A>C (BTD)	NP_001268653.2:n.-335A>C
NM_001370658.1:c.-147A>C (BTD) MANE Select	NP_001357587.1:n.-147A>C
NM_001370752.1:c.-147A>C (BTD)	NP_001357681.1:n.-147A>C
NM_001370753.1:c.-147A>C (BTD)	NP_001357682.1:n.-147A>C
NM_001281726.2:c.-147A>C (BTD)	NP_001268655.2:n.-147A>C