Canonical Allele Identifier: CA13796424

Gene: GPC5

Linked Data

• dbSNP Id: rs17267292
• gnomAD v2: 13-93323146-T-C
• gnomAD v3: 13-92670893-T-C
• gnomAD v4: 13-92670893-T-C
• MyVariant Identifiers: chr13:g.93323146T>C (hg19) ; chr13:g.92670893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.92670893T>C , CM000675.2:g.92670893T>C	GRCh38
NC_000013.10:g.93323146T>C , CM000675.1:g.93323146T>C	GRCh37
NC_000013.9:g.92121147T>C	NCBI36
NG_009370.1:g.1277212T>C
NG_009370.2:g.1277213T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377067.9:c.1562-195389T>C MANE Select	ENSP00000366267.3:n.1562-195389T>C
ENST00000377067.8:c.1562-195389T>C	ENSP00000366267.3:n.1562-195389T>C
NM_004466.5:c.1562-195389T>C	NP_004457.1:n.1562-195389T>C
XR_931643.1:n.173+6625A>G
XR_931644.1:n.173+6625A>G
XM_017020435.2:c.1562-79071T>C	XP_016875924.1:n.1562-79071T>C
XR_931643.3:n.2210+6625A>G
XR_931644.2:n.2210+6625A>G
NM_004466.6:c.1562-195389T>C MANE Select	NP_004457.1:n.1562-195389T>C