Canonical Allele Identifier: CA1347655406

Gene: HACL1 BTD

Linked Data

• dbSNP Id: rs2064244217
• gnomAD v4: 3-15601565-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601565C>T , CM000665.2:g.15601565C>T	GRCh38
NC_000003.11:g.15643072C>T , CM000665.1:g.15643072C>T	GRCh37
NC_000003.10:g.15618076C>T	NCBI36
NG_008019.1:g.4818C>T
NG_008019.2:g.5214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321169.10:c.-102G>A (HACL1) MANE Select	ENSP00000323811.5:n.-102G>A
ENST00000427382.2:c.-99C>T (BTD)	ENSP00000397113.2:n.-99C>T
ENST00000449107.7:c.-222C>T (BTD)	ENSP00000388212.2:n.-222C>T
ENST00000321169.9:c.-102G>A (HACL1)	ENSP00000323811.5:n.-102G>A
ENST00000417015.1:c.161C>T (BTD)	ENSP00000403775.1:p.Thr54Ile
ENST00000421993.5:c.-102G>A (HACL1)	ENSP00000391393.1:n.-102G>A
ENST00000422591.5:c.-102G>A (HACL1)	ENSP00000392796.1:n.-102G>A
ENST00000427382.1:c.-99C>T (BTD)	ENSP00000397113.1:n.-99C>T
ENST00000435217.6:c.-102G>A (HACL1)	ENSP00000395278.2:n.-102G>A
ENST00000451445.6:c.-102G>A (HACL1)	ENSP00000403656.2:n.-102G>A
ENST00000456194.6:c.-102G>A (HACL1)	ENSP00000390699.2:n.-102G>A
ENST00000457447.6:c.-102G>A (HACL1)	ENSP00000404883.2:n.-102G>A
ENST00000460907.1:n.5G>A (HACL1)
ENST00000494021.1:n.196C>T (BTD)
ENST00000628377.2:c.-102G>A (HACL1)	ENSP00000486684.1:n.-102G>A
NM_001281723.1:c.-156C>T (BTD)	NP_001268652.1:n.-156C>T
NM_001284413.1:c.-102G>A (HACL1)	NP_001271342.1:n.-102G>A
NM_001284415.1:c.-102G>A (HACL1)	NP_001271344.1:n.-102G>A
NM_001284416.1:c.-102G>A (HACL1)	NP_001271345.1:n.-102G>A
NM_012260.3:c.-102G>A (HACL1)	NP_036392.2:n.-102G>A
NR_104315.1:n.288G>A (HACL1)
NM_001281723.2:c.-156C>T (BTD)	NP_001268652.1:n.-156C>T
NM_001281723.3:c.-222C>T (BTD)	NP_001268652.2:n.-222C>T
NM_001284413.2:c.-102G>A (HACL1)	NP_001271342.1:n.-102G>A
NM_001284415.2:c.-102G>A (HACL1)	NP_001271344.1:n.-102G>A
NM_001284416.2:c.-102G>A (HACL1)	NP_001271345.1:n.-102G>A
NM_012260.4:c.-102G>A (HACL1) MANE Select	NP_036392.2:n.-102G>A
NR_104315.2:n.5G>A (HACL1)