Canonical Allele Identifier: CA2277127

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs772994434
• ExAC: 3:15643089 G / A
• gnomAD v2: 3-15643089-G-A
• gnomAD v3: 3-15601582-G-A
• gnomAD v4: 3-15601582-G-A
• MyVariant Identifiers: chr3:g.15643089G>A (hg19) ; chr3:g.15601582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601582G>A , CM000665.2:g.15601582G>A	GRCh38
NC_000003.11:g.15643089G>A , CM000665.1:g.15643089G>A	GRCh37
NC_000003.10:g.15618093G>A	NCBI36
NG_008019.1:g.4835G>A
NG_008019.2:g.5231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-82G>A (BTD)	ENSP00000397113.2:n.-82G>A
ENST00000449107.7:c.-205G>A (BTD)	ENSP00000388212.2:n.-205G>A
ENST00000321169.9:c.-119C>T (HACL1)	ENSP00000323811.5:n.-119C>T
ENST00000417015.1:c.178G>A (BTD)	ENSP00000403775.1:p.Gly60Ser
ENST00000421993.5:c.-119C>T (HACL1)	ENSP00000391393.1:n.-119C>T
ENST00000427382.1:c.-82G>A (BTD)	ENSP00000397113.1:n.-82G>A
ENST00000451445.6:c.-119C>T (HACL1)	ENSP00000403656.2:n.-119C>T
ENST00000494021.1:n.213G>A (BTD)
ENST00000628377.2:c.-119C>T (HACL1)	ENSP00000486684.1:n.-119C>T
NM_001281723.1:c.-139G>A (BTD)	NP_001268652.1:n.-139G>A
NM_001284413.1:c.-119C>T (HACL1)	NP_001271342.1:n.-119C>T
NM_001284415.1:c.-119C>T (HACL1)	NP_001271344.1:n.-119C>T
NM_001284416.1:c.-119C>T (HACL1)	NP_001271345.1:n.-119C>T
NM_012260.3:c.-119C>T (HACL1)	NP_036392.2:n.-119C>T
NR_104315.1:n.271C>T (HACL1)
NM_001281723.2:c.-139G>A (BTD)	NP_001268652.1:n.-139G>A
NM_001281723.3:c.-205G>A (BTD)	NP_001268652.2:n.-205G>A