Canonical Allele Identifier: CA70635707

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs930703346
• gnomAD v2: 3-15643247-C-T
• gnomAD v4: 3-15601740-C-T
• MyVariant Identifiers: chr3:g.15643247C>T (hg19) ; chr3:g.15601740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601740C>T , CM000665.2:g.15601740C>T	GRCh38
NC_000003.11:g.15643247C>T , CM000665.1:g.15643247C>T	GRCh37
NC_000003.10:g.15618251C>T	NCBI36
NG_008019.1:g.4993C>T
NG_008019.2:g.5389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303498.10:c.-447C>T (BTD)	ENSP00000306477.6:n.-447C>T
ENST00000427382.2:c.-17+93C>T (BTD)	ENSP00000397113.2:n.-17+93C>T
ENST00000449107.7:c.-47C>T (BTD)	ENSP00000388212.2:n.-47C>T
ENST00000673620.1:c.-47C>T (BTD)	ENSP00000500325.1:n.-47C>T
ENST00000321169.9:c.-277G>A (HACL1)	ENSP00000323811.5:n.-277G>A
ENST00000417015.1:c.*141C>T (BTD)	ENSP00000403775.1:n.*141C>T
ENST00000427382.1:c.-17+93C>T (BTD)	ENSP00000397113.1:n.-17+93C>T
ENST00000449107.5:c.20C>T (BTD)	ENSP00000388212.1:p.Thr7Ile
ENST00000494021.1:n.371C>T (BTD)
ENST00000628377.2:c.-277G>A (HACL1)	ENSP00000486684.1:n.-277G>A
NM_001281723.1:c.20C>T (BTD)	NP_001268652.1:p.Thr7Ile
NM_001284413.1:c.-277G>A (HACL1)	NP_001271342.1:n.-277G>A
NM_001284415.1:c.-277G>A (HACL1)	NP_001271344.1:n.-277G>A
NM_001284416.1:c.-277G>A (HACL1)	NP_001271345.1:n.-277G>A
NM_012260.3:c.-277G>A (HACL1)	NP_036392.2:n.-277G>A
NR_104315.1:n.113G>A (HACL1)
NM_001281723.2:c.20C>T (BTD)	NP_001268652.1:p.Thr7Ile
NM_001281723.3:c.-47C>T (BTD)	NP_001268652.2:n.-47C>T