Canonical Allele Identifier: CA2664666315

Linked Data

gnomAD v4: 3-15601645-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15601645G>A , CM000665.2:g.15601645G>A GRCh38
NC_000003.11:g.15643152G>A , CM000665.1:g.15643152G>A GRCh37
NC_000003.10:g.15618156G>A NCBI36
NG_008019.1:g.4898G>A
NG_008019.2:g.5294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000427382.2:c.-19G>A (BTD) ENSP00000397113.2:n.-19G>A
ENST00000449107.7:c.-142G>A (BTD) ENSP00000388212.2:n.-142G>A
ENST00000321169.9:c.-182C>T (HACL1) ENSP00000323811.5:n.-182C>T
ENST00000417015.1:c.*46G>A (BTD) ENSP00000403775.1:n.*46G>A
ENST00000427382.1:c.-19G>A (BTD) ENSP00000397113.1:n.-19G>A
ENST00000449107.5:c.-76G>A (BTD) ENSP00000388212.1:n.-76G>A
ENST00000494021.1:n.276G>A (BTD)
ENST00000628377.2:c.-182C>T (HACL1) ENSP00000486684.1:n.-182C>T
NM_001281723.1:c.-76G>A (BTD) NP_001268652.1:n.-76G>A
NM_001284413.1:c.-182C>T (HACL1) NP_001271342.1:n.-182C>T
NM_001284415.1:c.-182C>T (HACL1) NP_001271344.1:n.-182C>T
NM_001284416.1:c.-182C>T (HACL1) NP_001271345.1:n.-182C>T
NM_012260.3:c.-182C>T (HACL1) NP_036392.2:n.-182C>T
NR_104315.1:n.208C>T (HACL1)
NM_001281723.2:c.-76G>A (BTD) NP_001268652.1:n.-76G>A
NM_001281723.3:c.-142G>A (BTD) NP_001268652.2:n.-142G>A