Canonical Allele Identifier: CA400447879

Gene: CA4

Linked Data

• gnomAD v4: 17-60150090-C-A
• MyVariant Identifiers: chr17:g.58227451C>A (hg19) ; chr17:g.60150090C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150090C>A , CM000679.2:g.60150090C>A	GRCh38
NC_000017.10:g.58227451C>A , CM000679.1:g.58227451C>A	GRCh37
NC_000017.9:g.55582233C>A	NCBI36
NG_012050.1:g.5150C>A
NG_012050.2:g.5150C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.56C>A MANE Select	ENSP00000300900.3:p.Ala19Glu
ENST00000300900.8:c.56C>A	ENSP00000300900.3:p.Ala19Glu
ENST00000585705.5:n.149C>A
ENST00000586876.1:c.56C>A	ENSP00000467465.1:p.Ala19Glu
ENST00000591725.1:c.-303C>A	ENSP00000466964.1:n.-303C>A
NM_000717.3:c.56C>A	NP_000708.1:p.Ala19Glu
XM_005257639.1:c.56C>A	XP_005257696.1:p.Ala19Glu
NM_000717.4:c.56C>A	NP_000708.1:p.Ala19Glu
NR_137422.1:n.155C>A
XM_005257639.3:c.56C>A	XP_005257696.1:p.Ala19Glu
XR_001752604.2:n.149C>A
XR_001752605.2:n.149C>A
XR_001752606.2:n.149C>A
XR_001752607.2:n.149C>A
XR_001752608.2:n.149C>A
XR_001752609.2:n.149C>A
XR_001752610.2:n.149C>A
NM_000717.5:c.56C>A MANE Select	NP_000708.1:p.Ala19Glu
NR_137422.2:n.118C>A