Canonical Allele Identifier: CA901112951

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs1356224976
• gnomAD v3: 3-15601652-G-C
• gnomAD v4: 3-15601652-G-C
• MyVariant Identifiers: chr3:g.15643159G>C (hg19) ; chr3:g.15601652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601652G>C , CM000665.2:g.15601652G>C	GRCh38
NC_000003.11:g.15643159G>C , CM000665.1:g.15643159G>C	GRCh37
NC_000003.10:g.15618163G>C	NCBI36
NG_008019.1:g.4905G>C
NG_008019.2:g.5301G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+5G>C (BTD)	ENSP00000397113.2:n.-17+5G>C
ENST00000449107.7:c.-135G>C (BTD)	ENSP00000388212.2:n.-135G>C
ENST00000321169.9:c.-189C>G (HACL1)	ENSP00000323811.5:n.-189C>G
ENST00000417015.1:c.*53G>C (BTD)	ENSP00000403775.1:n.*53G>C
ENST00000427382.1:c.-17+5G>C (BTD)	ENSP00000397113.1:n.-17+5G>C
ENST00000449107.5:c.-69G>C (BTD)	ENSP00000388212.1:n.-69G>C
ENST00000494021.1:n.283G>C (BTD)
ENST00000628377.2:c.-189C>G (HACL1)	ENSP00000486684.1:n.-189C>G
NM_001281723.1:c.-69G>C (BTD)	NP_001268652.1:n.-69G>C
NM_001284413.1:c.-189C>G (HACL1)	NP_001271342.1:n.-189C>G
NM_001284415.1:c.-189C>G (HACL1)	NP_001271344.1:n.-189C>G
NM_001284416.1:c.-189C>G (HACL1)	NP_001271345.1:n.-189C>G
NM_012260.3:c.-189C>G (HACL1)	NP_036392.2:n.-189C>G
NR_104315.1:n.201C>G (HACL1)
NM_001281723.2:c.-69G>C (BTD)	NP_001268652.1:n.-69G>C
NM_001281723.3:c.-135G>C (BTD)	NP_001268652.2:n.-135G>C