Canonical Allele Identifier: CA351610194

Gene: BTD HACL1

Linked Data

• MyVariant Identifiers: chr3:g.15643232C>A (hg19) ; chr3:g.15601725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601725C>A , CM000665.2:g.15601725C>A	GRCh38
NC_000003.11:g.15643232C>A , CM000665.1:g.15643232C>A	GRCh37
NC_000003.10:g.15618236C>A	NCBI36
NG_008019.1:g.4978C>A
NG_008019.2:g.5374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+78C>A (BTD)	ENSP00000397113.2:n.-17+78C>A
ENST00000449107.7:c.-62C>A (BTD)	ENSP00000388212.2:n.-62C>A
ENST00000321169.9:c.-262G>T (HACL1)	ENSP00000323811.5:n.-262G>T
ENST00000417015.1:c.*126C>A (BTD)	ENSP00000403775.1:n.*126C>A
ENST00000427382.1:c.-17+78C>A (BTD)	ENSP00000397113.1:n.-17+78C>A
ENST00000449107.5:c.5C>A (BTD)	ENSP00000388212.1:p.Pro2Gln
ENST00000494021.1:n.356C>A (BTD)
ENST00000628377.2:c.-262G>T (HACL1)	ENSP00000486684.1:n.-262G>T
NM_001281723.1:c.5C>A (BTD)	NP_001268652.1:p.Pro2Gln
NM_001284413.1:c.-262G>T (HACL1)	NP_001271342.1:n.-262G>T
NM_001284415.1:c.-262G>T (HACL1)	NP_001271344.1:n.-262G>T
NM_001284416.1:c.-262G>T (HACL1)	NP_001271345.1:n.-262G>T
NM_012260.3:c.-262G>T (HACL1)	NP_036392.2:n.-262G>T
NR_104315.1:n.128G>T (HACL1)
NM_001281723.2:c.5C>A (BTD)	NP_001268652.1:p.Pro2Gln
NM_001281723.3:c.-62C>A (BTD)	NP_001268652.2:n.-62C>A