Canonical Allele Identifier: CA414841927

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868700A>T (hg19) ; chrY:g.19706814A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706814A>T , CM000686.2:g.19706814A>T	GRCh38
NC_000024.9:g.21868700A>T , CM000686.1:g.21868700A>T	GRCh37
NC_000024.8:g.20328088A>T	NCBI36
NG_032920.1:g.43126T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4049T>A MANE Select	ENSP00000322408.4:p.Met1350Lys
ENST00000317961.8:c.4049T>A	ENSP00000322408.4:p.Met1350Lys
ENST00000382806.6:c.3878T>A	ENSP00000372256.2:p.Met1293Lys
ENST00000440077.5:c.3926T>A	ENSP00000398543.1:p.Met1309Lys
ENST00000469599.6:n.2647T>A
ENST00000492117.1:n.3941T>A
ENST00000541639.5:c.4142T>A	ENSP00000444293.1:p.Met1381Lys
NM_001146705.1:c.4142T>A	NP_001140177.1:p.Met1381Lys
NM_001146706.1:c.3878T>A	NP_001140178.1:p.Met1293Lys
NM_004653.4:c.4049T>A	NP_004644.2:p.Met1350Lys
XM_005262560.1:c.3914T>A	XP_005262617.1:p.Met1305Lys
XM_005262561.1:c.3818T>A	XP_005262618.1:p.Met1273Lys
XM_011531468.1:c.3971T>A	XP_011529770.1:p.Met1324Lys
XR_244571.2:n.4337T>A
XR_430568.2:n.4671T>A
XM_005262560.3:c.3914T>A	XP_005262617.1:p.Met1305Lys
XM_005262561.3:c.3818T>A	XP_005262618.1:p.Met1273Lys
XM_011531468.3:c.3971T>A	XP_011529770.1:p.Met1324Lys
XM_024452495.1:c.2039T>A	XP_024308263.1:p.Met680Lys
XM_024452496.1:c.1805T>A	XP_024308264.1:p.Met602Lys
XR_001756009.2:n.4787T>A
XR_001756010.2:n.4787T>A
XR_001756011.2:n.4652T>A
XR_001756012.2:n.4800T>A
XR_001756013.2:n.4118T>A
XR_002958832.1:n.4219T>A
XR_002958834.1:n.4443T>A
XR_002958835.1:n.4326T>A
XR_002958836.1:n.5009T>A
XR_002958837.1:n.4816T>A
XR_244571.4:n.4336T>A
XR_430568.4:n.4670T>A
NM_001146706.2:c.3878T>A	NP_001140178.1:p.Met1293Lys
NM_004653.5:c.4049T>A MANE Select	NP_004644.2:p.Met1350Lys
NM_001146705.2:c.4142T>A	NP_001140177.1:p.Met1381Lys