Canonical Allele Identifier: CA10355847
Community Standard Title: NM_007220.4(CA5B):c.140C>T (p.Ala47Val)
Gene: CA5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15750163C>T , CM000685.2:g.15750163C>T GRCh38
NC_000023.10:g.15768286C>T , CM000685.1:g.15768286C>T GRCh37
NC_000023.9:g.15678207C>T NCBI36
NG_012766.1:g.16875C>T

Transcript Alleles

HGVS Amino-acid Change
NM_007220.4:c.140C>T MANE Select NP_009151.1:p.Ala47Val
ENST00000318636.8:c.140C>T MANE Select ENSP00000314099.3:p.Ala47Val
NM_007220.3:c.140C>T NP_009151.1:p.Ala47Val
NR_160544.1:n.904C>T
NR_160545.1:n.904C>T
ENST00000318636.7:c.140C>T ENSP00000314099.3:p.Ala47Val
ENST00000380313.1:n.244C>T
ENST00000380319.2:n.316C>T
ENST00000454127.2:c.140C>T ENSP00000417021.2:p.Ala47Val
ENST00000474624.5:n.320C>T
ENST00000478923.1:n.257C>T
ENST00000479740.5:c.140C>T ENSP00000417553.1:p.Ala47Val
ENST00000498004.5:c.140C>T ENSP00000418622.1:p.Ala47Val
XM_005274442.3:c.140C>T XP_005274499.1:p.Ala47Val
XM_005274442.5:c.140C>T XP_005274499.1:p.Ala47Val