Canonical Allele Identifier: CA384023664
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15130951G>A (hg19) chr12:g.14978017G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978017G>A , CM000674.2:g.14978017G>A GRCh38
NC_000012.11:g.15130951G>A , CM000674.1:g.15130951G>A GRCh37
NC_000012.10:g.15022218G>A NCBI36
NG_016859.1:g.9996G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.5G>A MANE Select ENSP00000266395.2:p.Ser2Asn
ENST00000266395.2:c.5G>A ENSP00000266395.2:p.Ser2Asn
NM_006205.2:c.5G>A NP_006196.1:p.Ser2Asn
XR_931376.1:n.175+11470C>T
XM_017019431.2:c.5G>A XP_016874920.1:p.Ser2Asn
XR_931376.2:n.389+11470C>T
NM_006205.3:c.5G>A MANE Select NP_006196.1:p.Ser2Asn
Search 100 bp 5'
Search 100 bp 3'