Canonical Allele Identifier: CA2664666290

Gene: BTD HACL1

Linked Data

• gnomAD v4: 3-15601583-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601583G>T , CM000665.2:g.15601583G>T	GRCh38
NC_000003.11:g.15643090G>T , CM000665.1:g.15643090G>T	GRCh37
NC_000003.10:g.15618094G>T	NCBI36
NG_008019.1:g.4836G>T
NG_008019.2:g.5232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-81G>T (BTD)	ENSP00000397113.2:n.-81G>T
ENST00000449107.7:c.-204G>T (BTD)	ENSP00000388212.2:n.-204G>T
ENST00000321169.9:c.-120C>A (HACL1)	ENSP00000323811.5:n.-120C>A
ENST00000417015.1:c.179G>T (BTD)	ENSP00000403775.1:p.Gly60Val
ENST00000421993.5:c.-120C>A (HACL1)	ENSP00000391393.1:n.-120C>A
ENST00000427382.1:c.-81G>T (BTD)	ENSP00000397113.1:n.-81G>T
ENST00000451445.6:c.-120C>A (HACL1)	ENSP00000403656.2:n.-120C>A
ENST00000494021.1:n.214G>T (BTD)
ENST00000628377.2:c.-120C>A (HACL1)	ENSP00000486684.1:n.-120C>A
NM_001281723.1:c.-138G>T (BTD)	NP_001268652.1:n.-138G>T
NM_001284413.1:c.-120C>A (HACL1)	NP_001271342.1:n.-120C>A
NM_001284415.1:c.-120C>A (HACL1)	NP_001271344.1:n.-120C>A
NM_001284416.1:c.-120C>A (HACL1)	NP_001271345.1:n.-120C>A
NM_012260.3:c.-120C>A (HACL1)	NP_036392.2:n.-120C>A
NR_104315.1:n.270C>A (HACL1)
NM_001281723.2:c.-138G>T (BTD)	NP_001268652.1:n.-138G>T
NM_001281723.3:c.-204G>T (BTD)	NP_001268652.2:n.-204G>T