Canonical Allele Identifier: CA397041082
Gene: CA5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902431A>C , CM000678.2:g.87902431A>C GRCh38
NC_000016.9:g.87936037A>C , CM000678.1:g.87936037A>C GRCh37
NC_000016.8:g.86493538A>C NCBI36
NG_033227.1:g.39076T>G
NG_033227.2:g.39099T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000648022.1:c.549T>G ENSP00000497934.1:p.Phe183Leu
ENST00000648177.1:c.430T>G ENSP00000497626.1:p.Phe144Val
ENST00000649158.1:c.549T>G ENSP00000496993.1:p.Phe183Leu
ENST00000649794.3:c.549T>G MANE Select ENSP00000498065.2:p.Phe183Leu
ENST00000309893.3:c.549T>G ENSP00000309649.2:p.Phe183Leu
NM_001739.1:c.549T>G NP_001730.1:p.Phe183Leu
XM_011523309.1:c.549T>G XP_011521611.1:p.Phe183Leu
XM_011523310.1:c.549T>G XP_011521612.1:p.Phe183Leu
XR_933417.1:n.668T>G
NM_001739.2:c.549T>G MANE Select NP_001730.1:p.Phe183Leu
XM_011523309.2:c.549T>G XP_011521611.1:p.Phe183Leu
XM_017023646.1:c.549T>G XP_016879135.1:p.Phe183Leu
XM_024450434.1:c.171T>G XP_024306202.1:p.Phe57Leu
XR_002957839.1:n.674T>G
NM_001367225.1:c.549T>G NP_001354154.1:p.Phe183Leu
NR_159798.1:n.628T>G
NR_159799.1:n.509T>G