Canonical Allele Identifier: CA844836355

Gene: BAALC BAALC-AS2

Linked Data

• dbSNP Id: rs1267732802
• gnomAD v3: 8-103141328-G-A
• gnomAD v4: 8-103141328-G-A
• MyVariant Identifiers: chr8:g.104153556G>A (hg19) ; chr8:g.103141328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.103141328G>A , CM000670.2:g.103141328G>A	GRCh38
NC_000008.10:g.104153556G>A , CM000670.1:g.104153556G>A	GRCh37
NC_000008.9:g.104222732G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309982.10:c.160+271G>A (BAALC) MANE Select	ENSP00000312457.5:n.160+271G>A
ENST00000297574.6:c.160+271G>A (BAALC)	ENSP00000297574.6:n.160+271G>A
ENST00000306391.10:c.160+271G>A (BAALC)	ENSP00000302559.6:n.160+271G>A
ENST00000309982.9:c.160+271G>A (BAALC)	ENSP00000312457.5:n.160+271G>A
ENST00000330955.5:c.160+271G>A (BAALC)	ENSP00000331579.5:n.160+271G>A
ENST00000438105.2:c.160+271G>A (BAALC)	ENSP00000395024.2:n.160+271G>A
NM_001024372.1:c.160+271G>A (BAALC)	NP_001019543.1:n.160+271G>A
NM_024812.2:c.160+271G>A (BAALC)	NP_079088.1:n.160+271G>A
NR_027071.1:n.15C>T (BAALC-AS2)
NM_001364874.1:c.160+271G>A (BAALC)	NP_001351803.1:n.160+271G>A
XR_001745601.2:n.310+271G>A (BAALC)
NM_024812.3:c.160+271G>A (BAALC) MANE Select	NP_079088.1:n.160+271G>A
NM_001024372.2:c.160+271G>A (BAALC)	NP_001019543.1:n.160+271G>A