Canonical Allele Identifier: CA2577522510

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601570G>C , CM000665.2:g.15601570G>C	GRCh38
NC_000003.11:g.15643077G>C , CM000665.1:g.15643077G>C	GRCh37
NC_000003.10:g.15618081G>C	NCBI36
NG_008019.1:g.4823G>C
NG_008019.2:g.5219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-94G>C (BTD)	ENSP00000397113.2:n.-94G>C
ENST00000449107.7:c.-217G>C (BTD)	ENSP00000388212.2:n.-217G>C
ENST00000321169.9:c.-107C>G (HACL1)	ENSP00000323811.5:n.-107C>G
ENST00000417015.1:c.166G>C (BTD)	ENSP00000403775.1:p.Asp56His
ENST00000421993.5:c.-107C>G (HACL1)	ENSP00000391393.1:n.-107C>G
ENST00000427382.1:c.-94G>C (BTD)	ENSP00000397113.1:n.-94G>C
ENST00000451445.6:c.-107C>G (HACL1)	ENSP00000403656.2:n.-107C>G
ENST00000494021.1:n.201G>C (BTD)
ENST00000628377.2:c.-107C>G (HACL1)	ENSP00000486684.1:n.-107C>G
NM_001281723.1:c.-151G>C (BTD)	NP_001268652.1:n.-151G>C
NM_001284413.1:c.-107C>G (HACL1)	NP_001271342.1:n.-107C>G
NM_001284415.1:c.-107C>G (HACL1)	NP_001271344.1:n.-107C>G
NM_001284416.1:c.-107C>G (HACL1)	NP_001271345.1:n.-107C>G
NM_012260.3:c.-107C>G (HACL1)	NP_036392.2:n.-107C>G
NR_104315.1:n.283C>G (HACL1)
NM_001281723.2:c.-151G>C (BTD)	NP_001268652.1:n.-151G>C
NM_001281723.3:c.-217G>C (BTD)	NP_001268652.2:n.-217G>C