Canonical Allele Identifier: CA397041078

Gene: CA5A

Linked Data

• MyVariant Identifiers: chr16:g.87936036A>C (hg19) ; chr16:g.87902430A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902430A>C , CM000678.2:g.87902430A>C	GRCh38
NC_000016.9:g.87936036A>C , CM000678.1:g.87936036A>C	GRCh37
NC_000016.8:g.86493537A>C	NCBI36
NG_033227.1:g.39077T>G
NG_033227.2:g.39100T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.550T>G	ENSP00000497934.1:p.Leu184Val
ENST00000648177.1:c.431T>G	ENSP00000497626.1:p.Phe144Cys
ENST00000649158.1:c.550T>G	ENSP00000496993.1:p.Leu184Val
ENST00000649794.3:c.550T>G MANE Select	ENSP00000498065.2:p.Leu184Val
ENST00000309893.3:c.550T>G	ENSP00000309649.2:p.Leu184Val
NM_001739.1:c.550T>G	NP_001730.1:p.Leu184Val
XM_011523309.1:c.550T>G	XP_011521611.1:p.Leu184Val
XM_011523310.1:c.550T>G	XP_011521612.1:p.Leu184Val
XR_933417.1:n.669T>G
NM_001739.2:c.550T>G MANE Select	NP_001730.1:p.Leu184Val
XM_011523309.2:c.550T>G	XP_011521611.1:p.Leu184Val
XM_017023646.1:c.550T>G	XP_016879135.1:p.Leu184Val
XM_024450434.1:c.172T>G	XP_024306202.1:p.Leu58Val
XR_002957839.1:n.675T>G
NM_001367225.1:c.550T>G	NP_001354154.1:p.Leu184Val
NR_159798.1:n.629T>G
NR_159799.1:n.510T>G