Canonical Allele Identifier: CA414839995

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867955A>G (hg19) ; chrY:g.19706069A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706069A>G , CM000686.2:g.19706069A>G	GRCh38
NC_000024.9:g.21867955A>G , CM000686.1:g.21867955A>G	GRCh37
NC_000024.8:g.20327343A>G	NCBI36
NG_032920.1:g.43871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4546T>C MANE Select	ENSP00000322408.4:p.Ser1516Pro
ENST00000317961.8:c.4546T>C	ENSP00000322408.4:p.Ser1516Pro
ENST00000382806.6:c.4375T>C	ENSP00000372256.2:p.Ser1459Pro
ENST00000440077.5:c.4423T>C	ENSP00000398543.1:p.Ser1475Pro
ENST00000469599.6:n.3297T>C
ENST00000492117.1:n.4591T>C
ENST00000541639.5:c.4639T>C	ENSP00000444293.1:p.Ser1547Pro
NM_001146705.1:c.4639T>C	NP_001140177.1:p.Ser1547Pro
NM_001146706.1:c.4375T>C	NP_001140178.1:p.Ser1459Pro
NM_004653.4:c.4546T>C	NP_004644.2:p.Ser1516Pro
XM_005262560.1:c.4411T>C	XP_005262617.1:p.Ser1471Pro
XM_005262561.1:c.4315T>C	XP_005262618.1:p.Ser1439Pro
XM_011531468.1:c.4468T>C	XP_011529770.1:p.Ser1490Pro
XR_430568.2:n.5321T>C
XM_005262560.3:c.4411T>C	XP_005262617.1:p.Ser1471Pro
XM_005262561.3:c.4315T>C	XP_005262618.1:p.Ser1439Pro
XM_011531468.3:c.4468T>C	XP_011529770.1:p.Ser1490Pro
XM_024452495.1:c.2536T>C	XP_024308263.1:p.Ser846Pro
XM_024452496.1:c.2302T>C	XP_024308264.1:p.Ser768Pro
XR_001756009.2:n.5284T>C
XR_001756010.2:n.5252T>C
XR_001756011.2:n.5149T>C
XR_001756012.2:n.5297T>C
XR_001756013.2:n.4615T>C
XR_002958832.1:n.4869T>C
XR_002958834.1:n.4940T>C
XR_002958835.1:n.4823T>C
XR_002958836.1:n.5474T>C
XR_002958837.1:n.5281T>C
XR_244571.4:n.4801T>C
XR_430568.4:n.5320T>C
NM_001146706.2:c.4375T>C	NP_001140178.1:p.Ser1459Pro
NM_004653.5:c.4546T>C MANE Select	NP_004644.2:p.Ser1516Pro
NM_001146705.2:c.4639T>C	NP_001140177.1:p.Ser1547Pro