Canonical Allele Identifier: CA400447794

Gene: CA4

Linked Data

• gnomAD v4: 17-60150071-G-A
• MyVariant Identifiers: chr17:g.58227432G>A (hg19) ; chr17:g.60150071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150071G>A , CM000679.2:g.60150071G>A	GRCh38
NC_000017.10:g.58227432G>A , CM000679.1:g.58227432G>A	GRCh37
NC_000017.9:g.55582214G>A	NCBI36
NG_012050.1:g.5131G>A
NG_012050.2:g.5131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.37G>A MANE Select	ENSP00000300900.3:p.Ala13Thr
ENST00000300900.8:c.37G>A	ENSP00000300900.3:p.Ala13Thr
ENST00000585705.5:n.130G>A
ENST00000586876.1:c.37G>A	ENSP00000467465.1:p.Ala13Thr
ENST00000591725.1:c.-322G>A	ENSP00000466964.1:n.-322G>A
NM_000717.3:c.37G>A	NP_000708.1:p.Ala13Thr
XM_005257639.1:c.37G>A	XP_005257696.1:p.Ala13Thr
NM_000717.4:c.37G>A	NP_000708.1:p.Ala13Thr
NR_137422.1:n.136G>A
XM_005257639.3:c.37G>A	XP_005257696.1:p.Ala13Thr
XR_001752604.2:n.130G>A
XR_001752605.2:n.130G>A
XR_001752606.2:n.130G>A
XR_001752607.2:n.130G>A
XR_001752608.2:n.130G>A
XR_001752609.2:n.130G>A
XR_001752610.2:n.130G>A
NM_000717.5:c.37G>A MANE Select	NP_000708.1:p.Ala13Thr
NR_137422.2:n.99G>A