Canonical Allele Identifier: CA351610246

Gene: BTD HACL1

Linked Data

• MyVariant Identifiers: chr3:g.15643258T>A (hg19) ; chr3:g.15601751T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601751T>A , CM000665.2:g.15601751T>A	GRCh38
NC_000003.11:g.15643258T>A , CM000665.1:g.15643258T>A	GRCh37
NC_000003.10:g.15618262T>A	NCBI36
NG_008019.1:g.5004T>A
NG_008019.2:g.5400T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-160T>A (BTD)	ENSP00000500069.2:n.-160T>A
ENST00000672892.2:c.-160T>A (BTD)	ENSP00000499944.2:n.-160T>A
ENST00000303498.10:c.-436T>A (BTD)	ENSP00000306477.6:n.-436T>A
ENST00000417015.3:c.-160T>A (BTD)	ENSP00000403775.3:n.-160T>A
ENST00000427382.2:c.-17+104T>A (BTD)	ENSP00000397113.2:n.-17+104T>A
ENST00000449107.7:c.-36T>A (BTD)	ENSP00000388212.2:n.-36T>A
ENST00000643237.3:c.-160T>A (BTD) MANE Select	ENSP00000495254.2:n.-160T>A
ENST00000672065.1:c.-100T>A (BTD)	ENSP00000500403.1:n.-100T>A
ENST00000672112.1:c.-282T>A (BTD)	ENSP00000500193.1:n.-282T>A
ENST00000672141.1:c.-160T>A (BTD)	ENSP00000500210.1:n.-160T>A
ENST00000672968.1:n.1T>A (BTD)
ENST00000673620.1:c.-36T>A (BTD)	ENSP00000500325.1:n.-36T>A
ENST00000303498.9:c.-100T>A (BTD)	ENSP00000306477.5:n.-100T>A
ENST00000321169.9:c.-288A>T (HACL1)	ENSP00000323811.5:n.-288A>T
ENST00000417015.1:c.*152T>A (BTD)	ENSP00000403775.1:n.*152T>A
ENST00000427382.1:c.-17+104T>A (BTD)	ENSP00000397113.1:n.-17+104T>A
ENST00000449107.5:c.31T>A (BTD)	ENSP00000388212.1:p.Leu11Met
ENST00000480711.1:n.4T>A (BTD)
ENST00000494021.1:n.382T>A (BTD)
ENST00000628377.2:c.-288A>T (HACL1)	ENSP00000486684.1:n.-288A>T
NM_000060.3:c.-100T>A (BTD)	NP_000051.1:n.-100T>A
NM_001281723.1:c.31T>A (BTD)	NP_001268652.1:p.Leu11Met
NM_001281724.1:c.-282T>A (BTD)	NP_001268653.1:n.-282T>A
NM_001281726.1:c.-100T>A (BTD)	NP_001268655.1:n.-100T>A
NM_001284413.1:c.-288A>T (HACL1)	NP_001271342.1:n.-288A>T
NM_001284415.1:c.-288A>T (HACL1)	NP_001271344.1:n.-288A>T
NM_001284416.1:c.-288A>T (HACL1)	NP_001271345.1:n.-288A>T
NM_012260.3:c.-288A>T (HACL1)	NP_036392.2:n.-288A>T
NR_104315.1:n.102A>T (HACL1)
NM_000060.4:c.-100T>A (BTD)	NP_000051.1:n.-100T>A
NM_001281723.2:c.31T>A (BTD)	NP_001268652.1:p.Leu11Met
NM_001281724.2:c.-282T>A (BTD)	NP_001268653.1:n.-282T>A
NM_001323582.1:c.-436T>A (BTD)	NP_001310511.1:n.-436T>A
NM_001281723.3:c.-36T>A (BTD)	NP_001268652.2:n.-36T>A
NM_001281724.3:c.-348T>A (BTD)	NP_001268653.2:n.-348T>A
NM_001370658.1:c.-160T>A (BTD) MANE Select	NP_001357587.1:n.-160T>A
NM_001370752.1:c.-160T>A (BTD)	NP_001357681.1:n.-160T>A
NM_001370753.1:c.-160T>A (BTD)	NP_001357682.1:n.-160T>A
NM_001281726.2:c.-160T>A (BTD)	NP_001268655.2:n.-160T>A