Canonical Allele Identifier: CA8817729

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs778010810
• ExAC: 17:78185758 G / A
• gnomAD v2: 17-78185758-G-A
• gnomAD v3: 17-80211959-G-A
• gnomAD v4: 17-80211959-G-A
• MyVariant Identifiers: chr17:g.78185758G>A (hg19) ; chr17:g.80211959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80211959G>A , CM000679.2:g.80211959G>A	GRCh38
NC_000017.10:g.78185758G>A , CM000679.1:g.78185758G>A	GRCh37
NC_000017.9:g.75800353G>A	NCBI36
NG_008229.1:g.13442C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+2701G>A (CARD14)
ENST00000326317.11:c.949+112C>T (SGSH) MANE Select	ENSP00000314606.6:n.949+112C>T
ENST00000326317.10:c.949+112C>T (SGSH)	ENSP00000314606.6:n.949+112C>T
ENST00000570923.1:c.*271C>T (SGSH)	ENSP00000458200.1:n.*271C>T
ENST00000572257.5:c.551+112C>T (SGSH)
ENST00000573150.5:c.*159+112C>T (SGSH)	ENSP00000459280.1:n.*159+112C>T
ENST00000575282.5:n.2885C>T (SGSH)
ENST00000576856.1:c.149-36C>T (SGSH)	ENSP00000460720.1:n.149-36C>T
NM_000199.3:c.949+112C>T (SGSH)	NP_000190.1:n.949+112C>T
XM_005257582.2:c.949+112C>T (SGSH)	XP_005257639.1:n.949+112C>T
XM_005257583.3:c.949+112C>T (SGSH)	XP_005257640.1:n.949+112C>T
XM_011525126.1:c.950-36C>T (SGSH)	XP_011523428.1:n.950-36C>T
XM_011525127.1:c.950-36C>T (SGSH)	XP_011523429.1:n.950-36C>T
XR_934532.1:n.1081C>T (SGSH)
NM_000199.4:c.949+112C>T (SGSH)	NP_000190.1:n.949+112C>T
NM_001352921.1:c.949+112C>T (SGSH)	NP_001339850.1:n.949+112C>T
NM_001352922.1:c.950-36C>T (SGSH)	NP_001339851.1:n.950-36C>T
NR_148201.1:n.930+112C>T (SGSH)
XM_005257583.4:c.949+112C>T (SGSH)	XP_005257640.1:n.949+112C>T
XM_017024952.1:c.950-36C>T (SGSH)	XP_016880441.1:n.950-36C>T
XR_001752585.1:n.969+112C>T (SGSH)
XR_001752586.1:n.969+112C>T (SGSH)
XR_001752587.1:n.969+112C>T (SGSH)
XR_001752588.1:n.969+112C>T (SGSH)
XR_001752589.1:n.969+112C>T (SGSH)
XR_001752590.1:n.969+112C>T (SGSH)
XR_001752591.1:n.969+112C>T (SGSH)
XR_001752592.1:n.969+112C>T (SGSH)
XR_002958057.1:n.970-36C>T (SGSH)
XR_934532.2:n.1081C>T (SGSH)
NM_000199.5:c.949+112C>T (SGSH) MANE Select	NP_000190.1:n.949+112C>T
NM_001352921.2:c.949+112C>T (SGSH)	NP_001339850.1:n.949+112C>T
NM_001352922.2:c.950-36C>T (SGSH)	NP_001339851.1:n.950-36C>T
NR_148201.2:n.863+112C>T (SGSH)
NM_001352921.3:c.949+112C>T (SGSH)	NP_001339850.1:n.949+112C>T