Canonical Allele Identifier: CA351610189

Gene: BTD HACL1

Linked Data

• MyVariant Identifiers: chr3:g.15643230G>T (hg19) ; chr3:g.15601723G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601723G>T , CM000665.2:g.15601723G>T	GRCh38
NC_000003.11:g.15643230G>T , CM000665.1:g.15643230G>T	GRCh37
NC_000003.10:g.15618234G>T	NCBI36
NG_008019.1:g.4976G>T
NG_008019.2:g.5372G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+76G>T (BTD)	ENSP00000397113.2:n.-17+76G>T
ENST00000449107.7:c.-64G>T (BTD)	ENSP00000388212.2:n.-64G>T
ENST00000321169.9:c.-260C>A (HACL1)	ENSP00000323811.5:n.-260C>A
ENST00000417015.1:c.*124G>T (BTD)	ENSP00000403775.1:n.*124G>T
ENST00000427382.1:c.-17+76G>T (BTD)	ENSP00000397113.1:n.-17+76G>T
ENST00000449107.5:c.3G>T (BTD)	ENSP00000388212.1:p.Met1Ile
ENST00000494021.1:n.354G>T (BTD)
ENST00000628377.2:c.-260C>A (HACL1)	ENSP00000486684.1:n.-260C>A
NM_001281723.1:c.3G>T (BTD)	NP_001268652.1:p.Met1Ile
NM_001284413.1:c.-260C>A (HACL1)	NP_001271342.1:n.-260C>A
NM_001284415.1:c.-260C>A (HACL1)	NP_001271344.1:n.-260C>A
NM_001284416.1:c.-260C>A (HACL1)	NP_001271345.1:n.-260C>A
NM_012260.3:c.-260C>A (HACL1)	NP_036392.2:n.-260C>A
NR_104315.1:n.130C>A (HACL1)
NM_001281723.2:c.3G>T (BTD)	NP_001268652.1:p.Met1Ile
NM_001281723.3:c.-64G>T (BTD)	NP_001268652.2:n.-64G>T