Canonical Allele Identifier: CA414842142

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21894607C>G (hg19) ; chrY:g.19732721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732721C>G , CM000686.2:g.19732721C>G	GRCh38
NC_000024.9:g.21894607C>G , CM000686.1:g.21894607C>G	GRCh37
NC_000024.8:g.20353995C>G	NCBI36
NG_032920.1:g.17219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.955G>C MANE Select	ENSP00000322408.4:p.Val319Leu
ENST00000317961.8:c.955G>C	ENSP00000322408.4:p.Val319Leu
ENST00000382806.6:c.784G>C	ENSP00000372256.2:p.Val262Leu
ENST00000440077.5:c.832G>C	ENSP00000398543.1:p.Val278Leu
ENST00000447300.1:c.820G>C	ENSP00000416377.1:p.Val274Leu
ENST00000541639.5:c.955G>C	ENSP00000444293.1:p.Val319Leu
NM_001146705.1:c.955G>C	NP_001140177.1:p.Val319Leu
NM_001146706.1:c.784G>C	NP_001140178.1:p.Val262Leu
NM_004653.4:c.955G>C	NP_004644.2:p.Val319Leu
XM_005262560.1:c.820G>C	XP_005262617.1:p.Val274Leu
XM_005262561.1:c.955G>C	XP_005262618.1:p.Val319Leu
XM_005262562.2:c.955G>C	XP_005262619.1:p.Val319Leu
XM_011531468.1:c.955G>C	XP_011529770.1:p.Val319Leu
XR_244571.2:n.1243G>C
XR_430568.2:n.1243G>C
XR_938609.1:n.1243G>C
XR_938610.1:n.1243G>C
XM_005262560.3:c.820G>C	XP_005262617.1:p.Val274Leu
XM_005262561.3:c.955G>C	XP_005262618.1:p.Val319Leu
XM_011531468.3:c.955G>C	XP_011529770.1:p.Val319Leu
XM_024452495.1:c.-1163G>C	XP_024308263.1:n.-1163G>C
XR_001756009.2:n.1242G>C
XR_001756010.2:n.1242G>C
XR_001756011.2:n.1107G>C
XR_001756012.2:n.1242G>C
XR_001756013.2:n.1242G>C
XR_002958832.1:n.1242G>C
XR_002958833.1:n.1242G>C
XR_002958834.1:n.1242G>C
XR_002958835.1:n.1242G>C
XR_002958836.1:n.1242G>C
XR_002958837.1:n.1242G>C
XR_244571.4:n.1242G>C
XR_430568.4:n.1242G>C
NM_001146706.2:c.784G>C	NP_001140178.1:p.Val262Leu
NM_004653.5:c.955G>C MANE Select	NP_004644.2:p.Val319Leu
NM_001146705.2:c.955G>C	NP_001140177.1:p.Val319Leu