Canonical Allele Identifier: CA6151529

Gene: GAL

Linked Data

• ClinVar Variation Id: 1285291
• ClinVar RCV Id: RCV001702334
• dbSNP Id: rs3136540
• ExAC: 11:68456410 T / C
• gnomAD v2: 11-68456410-T-C
• gnomAD v3: 11-68688942-T-C
• gnomAD v4: 11-68688942-T-C
• MyVariant Identifiers: chr11:g.68456410T>C (hg19) ; chr11:g.68688942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68688942T>C , CM000673.2:g.68688942T>C	GRCh38
NC_000011.9:g.68456410T>C , CM000673.1:g.68456410T>C	GRCh37
NC_000011.8:g.68212986T>C	NCBI36
NG_052785.1:g.9468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265643.4:c.301+16T>C MANE Select	ENSP00000265643.3:n.301+16T>C
ENST00000265643.3:c.301+16T>C	ENSP00000265643.3:n.301+16T>C
NM_015973.3:c.301+16T>C	NP_057057.2:n.301+16T>C
NM_015973.4:c.301+16T>C	NP_057057.2:n.301+16T>C
NM_015973.5:c.301+16T>C MANE Select	NP_057057.2:n.301+16T>C