Canonical Allele Identifier: CA2579268453

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914494C>T , CM000670.2:g.142914494C>T GRCh38
NC_000008.10:g.143995910C>T , CM000670.1:g.143995910C>T GRCh37
NC_000008.9:g.143992912C>T NCBI36
NG_008374.1:g.8350G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.800-76G>A (CYP11B2) MANE Select ENSP00000325822.2:n.800-76G>A
ENST00000522728.5:c.264+449C>T (GML) ENSP00000430799.1:n.264+449C>T
NM_000498.3:c.800-76G>A (CYP11B2) MANE Select NP_000489.3:n.800-76G>A
XM_011516877.1:c.878-76G>A (CYP11B2) XP_011515179.1:n.878-76G>A
XM_011516878.1:c.878-76G>A (CYP11B2) XP_011515180.1:n.878-76G>A
XM_011516879.1:c.800-76G>A (CYP11B2) XP_011515181.1:n.800-76G>A
XM_011516970.1:c.297+449C>T (GML) XP_011515272.1:n.297+449C>T