Canonical Allele Identifier: CA400447795

Gene: CA4

Linked Data

• MyVariant Identifiers: chr17:g.58227432G>C (hg19) ; chr17:g.60150071G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.37G>C MANE Select	ENSP00000300900.3:p.Ala13Pro
ENST00000300900.8:c.37G>C	ENSP00000300900.3:p.Ala13Pro
ENST00000585705.5:n.130G>C
ENST00000586876.1:c.37G>C	ENSP00000467465.1:p.Ala13Pro
ENST00000591725.1:c.-322G>C	ENSP00000466964.1:n.-322G>C
NM_000717.3:c.37G>C	NP_000708.1:p.Ala13Pro
XM_005257639.1:c.37G>C	XP_005257696.1:p.Ala13Pro
NM_000717.4:c.37G>C	NP_000708.1:p.Ala13Pro
NR_137422.1:n.136G>C
XM_005257639.3:c.37G>C	XP_005257696.1:p.Ala13Pro
XR_001752604.2:n.130G>C
XR_001752605.2:n.130G>C
XR_001752606.2:n.130G>C
XR_001752607.2:n.130G>C
XR_001752608.2:n.130G>C
XR_001752609.2:n.130G>C
XR_001752610.2:n.130G>C
NM_000717.5:c.37G>C MANE Select	NP_000708.1:p.Ala13Pro
NR_137422.2:n.99G>C