Canonical Allele Identifier: CA2277129

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs766215049
• ExAC: 3:15643097 A / G
• gnomAD v2: 3-15643097-A-G
• gnomAD v4: 3-15601590-A-G
• MyVariant Identifiers: chr3:g.15643097A>G (hg19) ; chr3:g.15601590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601590A>G , CM000665.2:g.15601590A>G	GRCh38
NC_000003.11:g.15643097A>G , CM000665.1:g.15643097A>G	GRCh37
NC_000003.10:g.15618101A>G	NCBI36
NG_008019.1:g.4843A>G
NG_008019.2:g.5239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-74A>G (BTD)	ENSP00000397113.2:n.-74A>G
ENST00000449107.7:c.-197A>G (BTD)	ENSP00000388212.2:n.-197A>G
ENST00000321169.9:c.-127T>C (HACL1)	ENSP00000323811.5:n.-127T>C
ENST00000417015.1:c.186A>G (BTD)	ENSP00000403775.1:p.Gln62=
ENST00000421993.5:c.-127T>C (HACL1)	ENSP00000391393.1:n.-127T>C
ENST00000427382.1:c.-74A>G (BTD)	ENSP00000397113.1:n.-74A>G
ENST00000494021.1:n.221A>G (BTD)
ENST00000628377.2:c.-127T>C (HACL1)	ENSP00000486684.1:n.-127T>C
NM_001281723.1:c.-131A>G (BTD)	NP_001268652.1:n.-131A>G
NM_001284413.1:c.-127T>C (HACL1)	NP_001271342.1:n.-127T>C
NM_001284415.1:c.-127T>C (HACL1)	NP_001271344.1:n.-127T>C
NM_001284416.1:c.-127T>C (HACL1)	NP_001271345.1:n.-127T>C
NM_012260.3:c.-127T>C (HACL1)	NP_036392.2:n.-127T>C
NR_104315.1:n.263T>C (HACL1)
NM_001281723.2:c.-131A>G (BTD)	NP_001268652.1:n.-131A>G
NM_001281723.3:c.-197A>G (BTD)	NP_001268652.2:n.-197A>G