Canonical Allele Identifier: CA266814985

Gene: GOLGA6L6

Linked Data

• ClinVar Variation Id: 441139
• ClinVar RCV Id: RCV000509318
• dbSNP Id: rs4932675
• gnomAD v2: 15-20739657-A-G
• gnomAD v3: 15-20534419-A-G
• gnomAD v4: 15-20534419-A-G
• MyVariant Identifiers: chr15:g.20739657A>G (hg19) ; chr15:g.20534419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.20534419A>G , CM000677.2:g.20534419A>G	GRCh38
NC_000015.9:g.20739657A>G , CM000677.1:g.20739657A>G	GRCh37
NC_000015.8:g.18999671A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619213.1:c.2015T>C MANE Select	ENSP00000480376.1:p.Met672Thr
NM_001145004.2:c.2015T>C MANE Select	NP_001138476.2:p.Met672Thr