Canonical Allele Identifier: CA17706482
Gene: CA6 HGNC NCBI

Linked Data

dbSNP Id: rs1046469360
gnomAD v3: 1-8956971-C-T
gnomAD v4: 1-8956971-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8956971C>T , CM000663.2:g.8956971C>T GRCh38
NC_000001.10:g.9017030C>T , CM000663.1:g.9017030C>T GRCh37
NC_000001.9:g.8939617C>T NCBI36
NG_033975.1:g.16138C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377443.7:c.260-166C>T MANE Select ENSP00000366662.2:n.260-166C>T
ENST00000377436.6:c.260-166C>T ENSP00000366654.3:n.260-166C>T
ENST00000377442.3:c.80-166C>T ENSP00000366661.2:n.80-166C>T
ENST00000377443.6:c.260-166C>T ENSP00000366662.2:n.260-166C>T
ENST00000476083.1:n.99-1939C>T
ENST00000549778.5:c.169-171C>T ENSP00000447108.1:n.169-171C>T
NM_001215.3:c.260-166C>T NP_001206.2:n.260-166C>T
NM_001270500.1:c.260-166C>T NP_001257429.1:n.260-166C>T
NM_001270501.1:c.80-166C>T NP_001257430.1:n.80-166C>T
NM_001270502.1:c.25-1939C>T NP_001257431.1:n.25-1939C>T
XM_011542083.1:c.272-166C>T XP_011540385.1:n.272-166C>T
XM_011542084.1:c.272-166C>T XP_011540386.1:n.272-166C>T
XM_011542083.3:c.272-166C>T XP_011540385.1:n.272-166C>T
XM_011542084.3:c.272-166C>T XP_011540386.1:n.272-166C>T
NM_001215.4:c.260-166C>T MANE Select NP_001206.2:n.260-166C>T
NM_001270500.2:c.260-166C>T NP_001257429.1:n.260-166C>T
NM_001270501.2:c.80-166C>T NP_001257430.1:n.80-166C>T
NM_001270502.2:c.25-1939C>T NP_001257431.1:n.25-1939C>T