Canonical Allele Identifier: CA400450251

Gene: CA4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60155345G>T , CM000679.2:g.60155345G>T	GRCh38
NC_000017.10:g.58232706G>T , CM000679.1:g.58232706G>T	GRCh37
NC_000017.9:g.55587488G>T	NCBI36
NG_012050.1:g.10405G>T
NG_012050.2:g.10405G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.90G>T MANE Select	ENSP00000300900.3:p.Glu30Asp
ENST00000300900.8:c.90G>T	ENSP00000300900.3:p.Glu30Asp
ENST00000585705.5:n.183G>T
ENST00000586876.1:c.90G>T	ENSP00000467465.1:p.Glu30Asp
ENST00000591725.1:c.-181G>T	ENSP00000466964.1:n.-181G>T
NM_000717.3:c.90G>T	NP_000708.1:p.Glu30Asp
XM_005257639.1:c.90G>T	XP_005257696.1:p.Glu30Asp
XM_011525183.1:c.-181G>T	XP_011523485.1:n.-181G>T
NM_000717.4:c.90G>T	NP_000708.1:p.Glu30Asp
NR_137422.1:n.189G>T
XM_005257639.3:c.90G>T	XP_005257696.1:p.Glu30Asp
XM_011525183.2:c.-181G>T	XP_011523485.1:n.-181G>T
XM_017025012.1:c.-181G>T	XP_016880501.1:n.-181G>T
XR_001752604.2:n.183G>T
XR_001752605.2:n.183G>T
XR_001752606.2:n.183G>T
XR_001752607.2:n.183G>T
XR_001752608.2:n.183G>T
XR_001752609.2:n.183G>T
XR_001752610.2:n.183G>T
NM_000717.5:c.90G>T MANE Select	NP_000708.1:p.Glu30Asp
NR_137422.2:n.152G>T