Canonical Allele Identifier: CA384023647
Gene: PDE6H HGNC NCBI

Linked Data

gnomAD v4: 12-14978014-T-C
MyVariant Identifiers: chr12:g.15130948T>C (hg19) chr12:g.14978014T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978014T>C , CM000674.2:g.14978014T>C GRCh38
NC_000012.11:g.15130948T>C , CM000674.1:g.15130948T>C GRCh37
NC_000012.10:g.15022215T>C NCBI36
NG_016859.1:g.9993T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.2T>C MANE Select ENSP00000266395.2:p.Met1Thr
ENST00000266395.2:c.2T>C ENSP00000266395.2:p.Met1Thr
NM_006205.2:c.2T>C NP_006196.1:p.Met1Thr
XR_931376.1:n.175+11473A>G
XM_017019431.2:c.2T>C XP_016874920.1:p.Met1Thr
XR_931376.2:n.389+11473A>G
NM_006205.3:c.2T>C MANE Select NP_006196.1:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'