Canonical Allele Identifier: CA70635549

Linked Data

dbSNP Id: rs937630850
gnomAD v2: 3-15643060-T-A
gnomAD v3: 3-15601553-T-A
gnomAD v4: 3-15601553-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15601553T>A , CM000665.2:g.15601553T>A GRCh38
NC_000003.11:g.15643060T>A , CM000665.1:g.15643060T>A GRCh37
NC_000003.10:g.15618064T>A NCBI36
NG_008019.1:g.4806T>A
NG_008019.2:g.5202T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321169.10:c.-90A>T (HACL1) MANE Select ENSP00000323811.5:n.-90A>T
ENST00000427382.2:c.-111T>A (BTD) ENSP00000397113.2:n.-111T>A
ENST00000449107.7:c.-234T>A (BTD) ENSP00000388212.2:n.-234T>A
ENST00000321169.9:c.-90A>T (HACL1) ENSP00000323811.5:n.-90A>T
ENST00000383779.8:c.-90A>T (HACL1) ENSP00000373289.4:n.-90A>T
ENST00000414979.1:c.-90A>T (HACL1) ENSP00000395352.1:n.-90A>T
ENST00000417015.1:c.149T>A (BTD) ENSP00000403775.1:p.Leu50His
ENST00000421993.5:c.-90A>T (HACL1) ENSP00000391393.1:n.-90A>T
ENST00000422591.5:c.-90A>T (HACL1) ENSP00000392796.1:n.-90A>T
ENST00000427382.1:c.-111T>A (BTD) ENSP00000397113.1:n.-111T>A
ENST00000435217.6:c.-90A>T (HACL1) ENSP00000395278.2:n.-90A>T
ENST00000451445.6:c.-90A>T (HACL1) ENSP00000403656.2:n.-90A>T
ENST00000456194.6:c.-90A>T (HACL1) ENSP00000390699.2:n.-90A>T
ENST00000457447.6:c.-90A>T (HACL1) ENSP00000404883.2:n.-90A>T
ENST00000460907.1:n.17A>T (HACL1)
ENST00000494021.1:n.184T>A (BTD)
ENST00000628377.2:c.-90A>T (HACL1) ENSP00000486684.1:n.-90A>T
NM_001281723.1:c.-168T>A (BTD) NP_001268652.1:n.-168T>A
NM_001284413.1:c.-90A>T (HACL1) NP_001271342.1:n.-90A>T
NM_001284415.1:c.-90A>T (HACL1) NP_001271344.1:n.-90A>T
NM_001284416.1:c.-90A>T (HACL1) NP_001271345.1:n.-90A>T
NM_012260.3:c.-90A>T (HACL1) NP_036392.2:n.-90A>T
NR_104315.1:n.300A>T (HACL1)
NM_001281723.2:c.-168T>A (BTD) NP_001268652.1:n.-168T>A
NM_001281723.3:c.-234T>A (BTD) NP_001268652.2:n.-234T>A
NM_001284413.2:c.-90A>T (HACL1) NP_001271342.1:n.-90A>T
NM_001284415.2:c.-90A>T (HACL1) NP_001271344.1:n.-90A>T
NM_001284416.2:c.-90A>T (HACL1) NP_001271345.1:n.-90A>T
NM_012260.4:c.-90A>T (HACL1) MANE Select NP_036392.2:n.-90A>T
NR_104315.2:n.17A>T (HACL1)