Canonical Allele Identifier: CA541345365

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs1457569748
• gnomAD v2: 3-15643149-G-C
• gnomAD v3: 3-15601642-G-C
• gnomAD v4: 3-15601642-G-C
• MyVariant Identifiers: chr3:g.15643149G>C (hg19) ; chr3:g.15601642G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601642G>C , CM000665.2:g.15601642G>C	GRCh38
NC_000003.11:g.15643149G>C , CM000665.1:g.15643149G>C	GRCh37
NC_000003.10:g.15618153G>C	NCBI36
NG_008019.1:g.4895G>C
NG_008019.2:g.5291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-22G>C (BTD)	ENSP00000397113.2:n.-22G>C
ENST00000449107.7:c.-145G>C (BTD)	ENSP00000388212.2:n.-145G>C
ENST00000321169.9:c.-179C>G (HACL1)	ENSP00000323811.5:n.-179C>G
ENST00000417015.1:c.*43G>C (BTD)	ENSP00000403775.1:n.*43G>C
ENST00000427382.1:c.-22G>C (BTD)	ENSP00000397113.1:n.-22G>C
ENST00000449107.5:c.-79G>C (BTD)	ENSP00000388212.1:n.-79G>C
ENST00000494021.1:n.273G>C (BTD)
ENST00000628377.2:c.-179C>G (HACL1)	ENSP00000486684.1:n.-179C>G
NM_001281723.1:c.-79G>C (BTD)	NP_001268652.1:n.-79G>C
NM_001284413.1:c.-179C>G (HACL1)	NP_001271342.1:n.-179C>G
NM_001284415.1:c.-179C>G (HACL1)	NP_001271344.1:n.-179C>G
NM_001284416.1:c.-179C>G (HACL1)	NP_001271345.1:n.-179C>G
NM_012260.3:c.-179C>G (HACL1)	NP_036392.2:n.-179C>G
NR_104315.1:n.211C>G (HACL1)
NM_001281723.2:c.-79G>C (BTD)	NP_001268652.1:n.-79G>C
NM_001281723.3:c.-145G>C (BTD)	NP_001268652.2:n.-145G>C