Canonical Allele Identifier: CA351610200

Gene: BTD HACL1

Linked Data

• MyVariant Identifiers: chr3:g.15643236G>C (hg19) ; chr3:g.15601729G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601729G>C , CM000665.2:g.15601729G>C	GRCh38
NC_000003.11:g.15643236G>C , CM000665.1:g.15643236G>C	GRCh37
NC_000003.10:g.15618240G>C	NCBI36
NG_008019.1:g.4982G>C
NG_008019.2:g.5378G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+82G>C (BTD)	ENSP00000397113.2:n.-17+82G>C
ENST00000449107.7:c.-58G>C (BTD)	ENSP00000388212.2:n.-58G>C
ENST00000673620.1:c.-58G>C (BTD)	ENSP00000500325.1:n.-58G>C
ENST00000321169.9:c.-266C>G (HACL1)	ENSP00000323811.5:n.-266C>G
ENST00000417015.1:c.*130G>C (BTD)	ENSP00000403775.1:n.*130G>C
ENST00000427382.1:c.-17+82G>C (BTD)	ENSP00000397113.1:n.-17+82G>C
ENST00000449107.5:c.9G>C (BTD)	ENSP00000388212.1:p.Glu3Asp
ENST00000494021.1:n.360G>C (BTD)
ENST00000628377.2:c.-266C>G (HACL1)	ENSP00000486684.1:n.-266C>G
NM_001281723.1:c.9G>C (BTD)	NP_001268652.1:p.Glu3Asp
NM_001284413.1:c.-266C>G (HACL1)	NP_001271342.1:n.-266C>G
NM_001284415.1:c.-266C>G (HACL1)	NP_001271344.1:n.-266C>G
NM_001284416.1:c.-266C>G (HACL1)	NP_001271345.1:n.-266C>G
NM_012260.3:c.-266C>G (HACL1)	NP_036392.2:n.-266C>G
NR_104315.1:n.124C>G (HACL1)
NM_001281723.2:c.9G>C (BTD)	NP_001268652.1:p.Glu3Asp
NM_001281723.3:c.-58G>C (BTD)	NP_001268652.2:n.-58G>C