Canonical Allele Identifier: CA541345386

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs1196729104
• gnomAD v2: 3-15643245-G-T
• gnomAD v3: 3-15601738-G-T
• gnomAD v4: 3-15601738-G-T
• MyVariant Identifiers: chr3:g.15643245G>T (hg19) ; chr3:g.15601738G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601738G>T , CM000665.2:g.15601738G>T	GRCh38
NC_000003.11:g.15643245G>T , CM000665.1:g.15643245G>T	GRCh37
NC_000003.10:g.15618249G>T	NCBI36
NG_008019.1:g.4991G>T
NG_008019.2:g.5387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303498.10:c.-449G>T (BTD)	ENSP00000306477.6:n.-449G>T
ENST00000427382.2:c.-17+91G>T (BTD)	ENSP00000397113.2:n.-17+91G>T
ENST00000449107.7:c.-49G>T (BTD)	ENSP00000388212.2:n.-49G>T
ENST00000673620.1:c.-49G>T (BTD)	ENSP00000500325.1:n.-49G>T
ENST00000321169.9:c.-275C>A (HACL1)	ENSP00000323811.5:n.-275C>A
ENST00000417015.1:c.*139G>T (BTD)	ENSP00000403775.1:n.*139G>T
ENST00000427382.1:c.-17+91G>T (BTD)	ENSP00000397113.1:n.-17+91G>T
ENST00000449107.5:c.18G>T (BTD)	ENSP00000388212.1:p.Gly6=
ENST00000494021.1:n.369G>T (BTD)
ENST00000628377.2:c.-275C>A (HACL1)	ENSP00000486684.1:n.-275C>A
NM_001281723.1:c.18G>T (BTD)	NP_001268652.1:p.Gly6=
NM_001284413.1:c.-275C>A (HACL1)	NP_001271342.1:n.-275C>A
NM_001284415.1:c.-275C>A (HACL1)	NP_001271344.1:n.-275C>A
NM_001284416.1:c.-275C>A (HACL1)	NP_001271345.1:n.-275C>A
NM_012260.3:c.-275C>A (HACL1)	NP_036392.2:n.-275C>A
NR_104315.1:n.115C>A (HACL1)
NM_001281723.2:c.18G>T (BTD)	NP_001268652.1:p.Gly6=
NM_001281723.3:c.-49G>T (BTD)	NP_001268652.2:n.-49G>T