Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601523A>C , CM000665.2:g.15601523A>C	GRCh38
NC_000003.11:g.15643030A>C , CM000665.1:g.15643030A>C	GRCh37
NC_000003.10:g.15618034A>C	NCBI36
NG_008019.1:g.4776A>C
NG_008019.2:g.5172A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321169.10:c.-60T>G (HACL1) MANE Select	ENSP00000323811.5:n.-60T>G
ENST00000427382.2:c.-141A>C (BTD)	ENSP00000397113.2:n.-141A>C
ENST00000449107.7:c.-264A>C (BTD)	ENSP00000388212.2:n.-264A>C
ENST00000321169.9:c.-60T>G (HACL1)	ENSP00000323811.5:n.-60T>G
ENST00000383779.8:c.-60T>G (HACL1)	ENSP00000373289.4:n.-60T>G
ENST00000414979.1:c.-60T>G (HACL1)	ENSP00000395352.1:n.-60T>G
ENST00000417015.1:c.119A>C (BTD)	ENSP00000403775.1:p.Lys40Thr
ENST00000421993.5:c.-60T>G (HACL1)	ENSP00000391393.1:n.-60T>G
ENST00000422591.5:c.-60T>G (HACL1)	ENSP00000392796.1:n.-60T>G
ENST00000427382.1:c.-141A>C (BTD)	ENSP00000397113.1:n.-141A>C
ENST00000435217.6:c.-60T>G (HACL1)	ENSP00000395278.2:n.-60T>G
ENST00000451445.6:c.-60T>G (HACL1)	ENSP00000403656.2:n.-60T>G
ENST00000456194.6:c.-60T>G (HACL1)	ENSP00000390699.2:n.-60T>G
ENST00000457447.6:c.-60T>G (HACL1)	ENSP00000404883.2:n.-60T>G
ENST00000460907.1:n.47T>G (HACL1)
ENST00000472857.1:n.24T>G (HACL1)
ENST00000494021.1:n.154A>C (BTD)
ENST00000628377.2:c.-60T>G (HACL1)	ENSP00000486684.1:n.-60T>G
NM_001281723.1:c.-198A>C (BTD)	NP_001268652.1:n.-198A>C
NM_001284413.1:c.-60T>G (HACL1)	NP_001271342.1:n.-60T>G
NM_001284415.1:c.-60T>G (HACL1)	NP_001271344.1:n.-60T>G
NM_001284416.1:c.-60T>G (HACL1)	NP_001271345.1:n.-60T>G
NM_012260.3:c.-60T>G (HACL1)	NP_036392.2:n.-60T>G
NR_104315.1:n.330T>G (HACL1)
NM_001281723.2:c.-198A>C (BTD)	NP_001268652.1:n.-198A>C
NM_001281723.3:c.-264A>C (BTD)	NP_001268652.2:n.-264A>C
NM_001284413.2:c.-60T>G (HACL1)	NP_001271342.1:n.-60T>G
NM_001284415.2:c.-60T>G (HACL1)	NP_001271344.1:n.-60T>G
NM_001284416.2:c.-60T>G (HACL1)	NP_001271345.1:n.-60T>G
NM_012260.4:c.-60T>G (HACL1) MANE Select	NP_036392.2:n.-60T>G
NR_104315.2:n.47T>G (HACL1)