Canonical Allele Identifier: CA338567873
Gene: CTRC HGNC NCBI

Linked Data

gnomAD v4: 1-15445696-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445696A>G , CM000663.2:g.15445696A>G GRCh38
NC_000001.10:g.15772191A>G , CM000663.1:g.15772191A>G GRCh37
NC_000001.9:g.15644778A>G NCBI36
NG_009253.1:g.12254A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.739A>G MANE Select ENSP00000365116.4:p.Lys247Glu
ENST00000375943.6:c.*193A>G ENSP00000365110.2:n.*193A>G
ENST00000375949.4:c.739A>G ENSP00000365116.4:p.Lys247Glu
ENST00000483406.1:n.503A>G
NM_007272.2:c.739A>G NP_009203.2:p.Lys247Glu
XM_011540550.1:c.593A>G XP_011538852.1:p.Gln198Arg
NM_007272.3:c.739A>G MANE Select NP_009203.2:p.Lys247Glu