Canonical Allele Identifier: CA10639802

Gene: GPC6

Linked Data

• ClinVar Variation Id: 312590
• ClinVar RCV Id: RCV000338601
• dbSNP Id: rs559244686
• gnomAD v2: 13-95057711-G-A
• gnomAD v3: 13-94405457-G-A
• gnomAD v4: 13-94405457-G-A
• MyVariant Identifiers: chr13:g.95057711G>A (hg19) ; chr13:g.94405457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94405457G>A , CM000675.2:g.94405457G>A	GRCh38
NC_000013.10:g.95057711G>A , CM000675.1:g.95057711G>A	GRCh37
NC_000013.9:g.93855712G>A	NCBI36
NG_011880.1:g.1183634G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377047.9:c.*2240G>A MANE Select	ENSP00000366246.3:n.*2240G>A
ENST00000377047.8:c.*2240G>A	ENSP00000366246.3:n.*2240G>A
NM_005708.3:c.*2240G>A	NP_005699.1:n.*2240G>A
XM_011521044.1:c.*2240G>A	XP_011519346.1:n.*2240G>A
NM_005708.4:c.*2240G>A	NP_005699.1:n.*2240G>A
XM_011521044.2:c.*2240G>A	XP_011519346.1:n.*2240G>A
XM_017020298.1:c.*2240G>A	XP_016875787.1:n.*2240G>A
XM_017020299.2:c.*2240G>A	XP_016875788.1:n.*2240G>A
XM_017020300.1:c.*2240G>A	XP_016875789.1:n.*2240G>A
XM_017020301.1:c.*2240G>A	XP_016875790.1:n.*2240G>A
XM_017020302.1:c.*2240G>A	XP_016875791.1:n.*2240G>A
NM_005708.5:c.*2240G>A MANE Select	NP_005699.1:n.*2240G>A