Canonical Allele Identifier: CA254867184

Gene: GPC5

Linked Data

• dbSNP Id: rs937867843
• gnomAD v3: 13-92670947-G-T
• gnomAD v4: 13-92670947-G-T
• MyVariant Identifiers: chr13:g.93323200G>T (hg19) ; chr13:g.92670947G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.92670947G>T , CM000675.2:g.92670947G>T	GRCh38
NC_000013.10:g.93323200G>T , CM000675.1:g.93323200G>T	GRCh37
NC_000013.9:g.92121201G>T	NCBI36
NG_009370.1:g.1277266G>T
NG_009370.2:g.1277267G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377067.9:c.1562-195335G>T MANE Select	ENSP00000366267.3:n.1562-195335G>T
ENST00000377067.8:c.1562-195335G>T	ENSP00000366267.3:n.1562-195335G>T
NM_004466.5:c.1562-195335G>T	NP_004457.1:n.1562-195335G>T
XR_931643.1:n.173+6571C>A
XR_931644.1:n.173+6571C>A
XM_017020435.2:c.1562-79017G>T	XP_016875924.1:n.1562-79017G>T
XR_931643.3:n.2210+6571C>A
XR_931644.2:n.2210+6571C>A
NM_004466.6:c.1562-195335G>T MANE Select	NP_004457.1:n.1562-195335G>T