Canonical Allele Identifier: CA351610216

Gene: BTD HACL1

Linked Data

• MyVariant Identifiers: chr3:g.15643244G>C (hg19) ; chr3:g.15601737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601737G>C , CM000665.2:g.15601737G>C	GRCh38
NC_000003.11:g.15643244G>C , CM000665.1:g.15643244G>C	GRCh37
NC_000003.10:g.15618248G>C	NCBI36
NG_008019.1:g.4990G>C
NG_008019.2:g.5386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303498.10:c.-450G>C (BTD)	ENSP00000306477.6:n.-450G>C
ENST00000427382.2:c.-17+90G>C (BTD)	ENSP00000397113.2:n.-17+90G>C
ENST00000449107.7:c.-50G>C (BTD)	ENSP00000388212.2:n.-50G>C
ENST00000673620.1:c.-50G>C (BTD)	ENSP00000500325.1:n.-50G>C
ENST00000321169.9:c.-274C>G (HACL1)	ENSP00000323811.5:n.-274C>G
ENST00000417015.1:c.*138G>C (BTD)	ENSP00000403775.1:n.*138G>C
ENST00000427382.1:c.-17+90G>C (BTD)	ENSP00000397113.1:n.-17+90G>C
ENST00000449107.5:c.17G>C (BTD)	ENSP00000388212.1:p.Gly6Ala
ENST00000494021.1:n.368G>C (BTD)
ENST00000628377.2:c.-274C>G (HACL1)	ENSP00000486684.1:n.-274C>G
NM_001281723.1:c.17G>C (BTD)	NP_001268652.1:p.Gly6Ala
NM_001284413.1:c.-274C>G (HACL1)	NP_001271342.1:n.-274C>G
NM_001284415.1:c.-274C>G (HACL1)	NP_001271344.1:n.-274C>G
NM_001284416.1:c.-274C>G (HACL1)	NP_001271345.1:n.-274C>G
NM_012260.3:c.-274C>G (HACL1)	NP_036392.2:n.-274C>G
NR_104315.1:n.116C>G (HACL1)
NM_001281723.2:c.17G>C (BTD)	NP_001268652.1:p.Gly6Ala
NM_001281723.3:c.-50G>C (BTD)	NP_001268652.2:n.-50G>C