Canonical Allele Identifier: CA414840444

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868063C>G (hg19) ; chrY:g.19706177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706177C>G , CM000686.2:g.19706177C>G	GRCh38
NC_000024.9:g.21868063C>G , CM000686.1:g.21868063C>G	GRCh37
NC_000024.8:g.20327451C>G	NCBI36
NG_032920.1:g.43763G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4438G>C MANE Select	ENSP00000322408.4:p.Glu1480Gln
ENST00000317961.8:c.4438G>C	ENSP00000322408.4:p.Glu1480Gln
ENST00000382806.6:c.4267G>C	ENSP00000372256.2:p.Glu1423Gln
ENST00000440077.5:c.4315G>C	ENSP00000398543.1:p.Glu1439Gln
ENST00000469599.6:n.3189G>C
ENST00000492117.1:n.4483G>C
ENST00000541639.5:c.4531G>C	ENSP00000444293.1:p.Glu1511Gln
NM_001146705.1:c.4531G>C	NP_001140177.1:p.Glu1511Gln
NM_001146706.1:c.4267G>C	NP_001140178.1:p.Glu1423Gln
NM_004653.4:c.4438G>C	NP_004644.2:p.Glu1480Gln
XM_005262560.1:c.4303G>C	XP_005262617.1:p.Glu1435Gln
XM_005262561.1:c.4207G>C	XP_005262618.1:p.Glu1403Gln
XM_011531468.1:c.4360G>C	XP_011529770.1:p.Glu1454Gln
XR_430568.2:n.5213G>C
XM_005262560.3:c.4303G>C	XP_005262617.1:p.Glu1435Gln
XM_005262561.3:c.4207G>C	XP_005262618.1:p.Glu1403Gln
XM_011531468.3:c.4360G>C	XP_011529770.1:p.Glu1454Gln
XM_024452495.1:c.2428G>C	XP_024308263.1:p.Glu810Gln
XM_024452496.1:c.2194G>C	XP_024308264.1:p.Glu732Gln
XR_001756009.2:n.5176G>C
XR_001756010.2:n.5144G>C
XR_001756011.2:n.5041G>C
XR_001756012.2:n.5189G>C
XR_001756013.2:n.4507G>C
XR_002958832.1:n.4761G>C
XR_002958834.1:n.4832G>C
XR_002958835.1:n.4715G>C
XR_002958836.1:n.5366G>C
XR_002958837.1:n.5173G>C
XR_244571.4:n.4693G>C
XR_430568.4:n.5212G>C
NM_001146706.2:c.4267G>C	NP_001140178.1:p.Glu1423Gln
NM_004653.5:c.4438G>C MANE Select	NP_004644.2:p.Glu1480Gln
NM_001146705.2:c.4531G>C	NP_001140177.1:p.Glu1511Gln