Canonical Allele Identifier: CA541677830

Gene: HACL1 BTD

Linked Data

• dbSNP Id: rs779132749
• gnomAD v2: 3-15643046-G-C
• gnomAD v3: 3-15601539-G-C
• gnomAD v4: 3-15601539-G-C
• MyVariant Identifiers: chr3:g.15643046G>C (hg19) ; chr3:g.15643046_15643059delinsCGCAGCACGCCACC (hg19) ; chr3:g.15601539G>C (hg38) ; chr3:g.15601539_15601552delinsCGCAGCACGCCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601539G>C , CM000665.2:g.15601539G>C	GRCh38
NC_000003.11:g.15643046G>C , CM000665.1:g.15643046G>C	GRCh37
NC_000003.10:g.15618050G>C	NCBI36
NG_008019.1:g.4792G>C
NG_008019.2:g.5188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321169.10:c.-76C>G (HACL1) MANE Select	ENSP00000323811.5:n.-76C>G
ENST00000427382.2:c.-125G>C (BTD)	ENSP00000397113.2:n.-125G>C
ENST00000449107.7:c.-248G>C (BTD)	ENSP00000388212.2:n.-248G>C
ENST00000321169.9:c.-76C>G (HACL1)	ENSP00000323811.5:n.-76C>G
ENST00000383779.8:c.-76C>G (HACL1)	ENSP00000373289.4:n.-76C>G
ENST00000414979.1:c.-76C>G (HACL1)	ENSP00000395352.1:n.-76C>G
ENST00000417015.1:c.135G>C (BTD)	ENSP00000403775.1:p.Ser45=
ENST00000421993.5:c.-76C>G (HACL1)	ENSP00000391393.1:n.-76C>G
ENST00000422591.5:c.-76C>G (HACL1)	ENSP00000392796.1:n.-76C>G
ENST00000427382.1:c.-125G>C (BTD)	ENSP00000397113.1:n.-125G>C
ENST00000435217.6:c.-76C>G (HACL1)	ENSP00000395278.2:n.-76C>G
ENST00000451445.6:c.-76C>G (HACL1)	ENSP00000403656.2:n.-76C>G
ENST00000456194.6:c.-76C>G (HACL1)	ENSP00000390699.2:n.-76C>G
ENST00000457447.6:c.-76C>G (HACL1)	ENSP00000404883.2:n.-76C>G
ENST00000460907.1:n.31C>G (HACL1)
ENST00000472857.1:n.8C>G (HACL1)
ENST00000494021.1:n.170G>C (BTD)
ENST00000628377.2:c.-76C>G (HACL1)	ENSP00000486684.1:n.-76C>G
NM_001281723.1:c.-182G>C (BTD)	NP_001268652.1:n.-182G>C
NM_001284413.1:c.-76C>G (HACL1)	NP_001271342.1:n.-76C>G
NM_001284415.1:c.-76C>G (HACL1)	NP_001271344.1:n.-76C>G
NM_001284416.1:c.-76C>G (HACL1)	NP_001271345.1:n.-76C>G
NM_012260.3:c.-76C>G (HACL1)	NP_036392.2:n.-76C>G
NR_104315.1:n.314C>G (HACL1)
NM_001281723.2:c.-182G>C (BTD)	NP_001268652.1:n.-182G>C
NM_001281723.3:c.-248G>C (BTD)	NP_001268652.2:n.-248G>C
NM_001284413.2:c.-76C>G (HACL1)	NP_001271342.1:n.-76C>G
NM_001284415.2:c.-76C>G (HACL1)	NP_001271344.1:n.-76C>G
NM_001284416.2:c.-76C>G (HACL1)	NP_001271345.1:n.-76C>G
NM_012260.4:c.-76C>G (HACL1) MANE Select	NP_036392.2:n.-76C>G
NR_104315.2:n.31C>G (HACL1)