Canonical Allele Identifier: CA775532787

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs1169481556
• gnomAD v4: 17-80210121-G-C
• MyVariant Identifiers: chr17:g.78183920G>C (hg19) ; chr17:g.80210121G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210121G>C , CM000679.2:g.80210121G>C	GRCh38
NC_000017.10:g.78183920G>C , CM000679.1:g.78183920G>C	GRCh37
NC_000017.9:g.75798515G>C	NCBI36
NG_008229.1:g.15280C>G
NG_032778.1:g.45130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+863G>C (CARD14)
ENST00000326317.11:c.*331C>G (SGSH) MANE Select	ENSP00000314606.6:n.*331C>G
ENST00000326317.10:c.*331C>G (SGSH)	ENSP00000314606.6:n.*331C>G
ENST00000572257.5:c.551+1950C>G (SGSH)
ENST00000573150.5:c.*1050C>G (SGSH)	ENSP00000459280.1:n.*1050C>G
ENST00000575282.5:n.4723C>G (SGSH)
NM_000199.3:c.*331C>G (SGSH)	NP_000190.1:n.*331C>G
XM_005257583.3:c.949+1950C>G (SGSH)	XP_005257640.1:n.949+1950C>G
NM_000199.4:c.*331C>G (SGSH)	NP_000190.1:n.*331C>G
NM_001352921.1:c.*927C>G (SGSH)	NP_001339850.1:n.*927C>G
NM_001352922.1:c.*890C>G (SGSH)	NP_001339851.1:n.*890C>G
NR_148201.1:n.1821C>G (SGSH)
XM_005257583.4:c.949+1950C>G (SGSH)	XP_005257640.1:n.949+1950C>G
XM_017024952.1:c.*1744C>G (SGSH)	XP_016880441.1:n.*1744C>G
XR_001752585.1:n.1860C>G (SGSH)
XR_001752586.1:n.969+1950C>G (SGSH)
XR_001752587.1:n.969+1950C>G (SGSH)
XR_001752588.1:n.969+1950C>G (SGSH)
XR_001752589.1:n.969+1950C>G (SGSH)
XR_001752590.1:n.969+1950C>G (SGSH)
XR_001752591.1:n.969+1950C>G (SGSH)
XR_001752592.1:n.969+1950C>G (SGSH)
XR_002958057.1:n.1024+1748C>G (SGSH)
NM_000199.5:c.*331C>G (SGSH) MANE Select	NP_000190.1:n.*331C>G
NM_001352921.2:c.*927C>G (SGSH)	NP_001339850.1:n.*927C>G
NM_001352922.2:c.*890C>G (SGSH)	NP_001339851.1:n.*890C>G
NR_148201.2:n.1754C>G (SGSH)
NM_001352921.3:c.*927C>G (SGSH)	NP_001339850.1:n.*927C>G