Canonical Allele Identifier: CA351610206

Gene: BTD HACL1

Linked Data

• MyVariant Identifiers: chr3:g.15643238G>T (hg19) ; chr3:g.15601731G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601731G>T , CM000665.2:g.15601731G>T	GRCh38
NC_000003.11:g.15643238G>T , CM000665.1:g.15643238G>T	GRCh37
NC_000003.10:g.15618242G>T	NCBI36
NG_008019.1:g.4984G>T
NG_008019.2:g.5380G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+84G>T (BTD)	ENSP00000397113.2:n.-17+84G>T
ENST00000449107.7:c.-56G>T (BTD)	ENSP00000388212.2:n.-56G>T
ENST00000673620.1:c.-56G>T (BTD)	ENSP00000500325.1:n.-56G>T
ENST00000321169.9:c.-268C>A (HACL1)	ENSP00000323811.5:n.-268C>A
ENST00000417015.1:c.*132G>T (BTD)	ENSP00000403775.1:n.*132G>T
ENST00000427382.1:c.-17+84G>T (BTD)	ENSP00000397113.1:n.-17+84G>T
ENST00000449107.5:c.11G>T (BTD)	ENSP00000388212.1:p.Gly4Val
ENST00000494021.1:n.362G>T (BTD)
ENST00000628377.2:c.-268C>A (HACL1)	ENSP00000486684.1:n.-268C>A
NM_001281723.1:c.11G>T (BTD)	NP_001268652.1:p.Gly4Val
NM_001284413.1:c.-268C>A (HACL1)	NP_001271342.1:n.-268C>A
NM_001284415.1:c.-268C>A (HACL1)	NP_001271344.1:n.-268C>A
NM_001284416.1:c.-268C>A (HACL1)	NP_001271345.1:n.-268C>A
NM_012260.3:c.-268C>A (HACL1)	NP_036392.2:n.-268C>A
NR_104315.1:n.122C>A (HACL1)
NM_001281723.2:c.11G>T (BTD)	NP_001268652.1:p.Gly4Val
NM_001281723.3:c.-56G>T (BTD)	NP_001268652.2:n.-56G>T