Canonical Allele Identifier: CA8685528
Community Standard Title: NM_000717.5(CA4):c.753A>T (p.Ala251=)
Gene: CA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60159238A>T , CM000679.2:g.60159238A>T GRCh38
NC_000017.10:g.58236599A>T , CM000679.1:g.58236599A>T GRCh37
NC_000017.9:g.55591381A>T NCBI36
NG_012050.1:g.14298A>T
NG_012050.2:g.14298A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000717.5:c.753A>T MANE Select NP_000708.1:p.Ala251=
ENST00000300900.9:c.753A>T MANE Select ENSP00000300900.3:p.Ala251=
NM_000717.3:c.753A>T NP_000708.1:p.Ala251=
NM_000717.4:c.753A>T NP_000708.1:p.Ala251=
NR_137422.1:n.852A>T
NR_137422.2:n.815A>T
ENST00000300900.8:c.753A>T ENSP00000300900.3:p.Ala251=
ENST00000586876.1:c.*178+792A>T ENSP00000467465.1:n.*178+792A>T
ENST00000590203.1:c.369A>T ENSP00000465837.1:p.Ala123=
XM_005257639.1:c.825A>T XP_005257696.1:p.Ala275=
XM_005257639.3:c.825A>T XP_005257696.1:p.Ala275=
XM_011525183.1:c.555A>T XP_011523485.1:p.Ala185=
XM_011525183.2:c.555A>T XP_011523485.1:p.Ala185=
XM_017025012.1:c.483A>T XP_016880501.1:p.Ala161=
XR_001752604.2:n.918A>T
XR_001752605.2:n.918A>T
XR_001752606.2:n.918A>T
XR_001752607.2:n.846A>T
XR_001752608.2:n.846A>T
XR_001752609.2:n.846A>T
XR_001752610.2:n.846A>T