Canonical Allele Identifier: CA2617795859
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1864619428
gnomAD v4: 12-14977890-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977890C>T , CM000674.2:g.14977890C>T GRCh38
NC_000012.11:g.15130824C>T , CM000674.1:g.15130824C>T GRCh37
NC_000012.10:g.15022091C>T NCBI36
NG_016859.1:g.9869C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-41-82C>T MANE Select ENSP00000266395.2:n.-41-82C>T
ENST00000266395.2:c.-41-82C>T ENSP00000266395.2:n.-41-82C>T
NM_006205.2:c.-41-82C>T NP_006196.1:n.-41-82C>T
XR_931376.1:n.175+11597G>A
XM_017019431.2:c.-123C>T XP_016874920.1:n.-123C>T
XR_931376.2:n.389+11597G>A
NM_006205.3:c.-41-82C>T MANE Select NP_006196.1:n.-41-82C>T
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