Canonical Allele Identifier: CA414843457

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869415A>T (hg19) ; chrY:g.19707529A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707529A>T , CM000686.2:g.19707529A>T	GRCh38
NC_000024.9:g.21869415A>T , CM000686.1:g.21869415A>T	GRCh37
NC_000024.8:g.20328803A>T	NCBI36
NG_032920.1:g.42411T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3617T>A MANE Select	ENSP00000322408.4:p.Leu1206His
ENST00000317961.8:c.3617T>A	ENSP00000322408.4:p.Leu1206His
ENST00000382806.6:c.3446T>A	ENSP00000372256.2:p.Leu1149His
ENST00000415360.1:c.533T>A	ENSP00000389433.1:p.Leu178His
ENST00000440077.5:c.3494T>A	ENSP00000398543.1:p.Leu1165His
ENST00000469599.6:n.2215T>A
ENST00000492117.1:n.3509T>A
ENST00000541639.5:c.3710T>A	ENSP00000444293.1:p.Leu1237His
NM_001146705.1:c.3710T>A	NP_001140177.1:p.Leu1237His
NM_001146706.1:c.3446T>A	NP_001140178.1:p.Leu1149His
NM_004653.4:c.3617T>A	NP_004644.2:p.Leu1206His
XM_005262560.1:c.3482T>A	XP_005262617.1:p.Leu1161His
XM_005262561.1:c.3386T>A	XP_005262618.1:p.Leu1129His
XM_011531468.1:c.3539T>A	XP_011529770.1:p.Leu1180His
XR_244571.2:n.3905T>A
XR_430568.2:n.4239T>A
XM_005262560.3:c.3482T>A	XP_005262617.1:p.Leu1161His
XM_005262561.3:c.3386T>A	XP_005262618.1:p.Leu1129His
XM_011531468.3:c.3539T>A	XP_011529770.1:p.Leu1180His
XM_024452495.1:c.1607T>A	XP_024308263.1:p.Leu536His
XM_024452496.1:c.1373T>A	XP_024308264.1:p.Leu458His
XR_001756009.2:n.4355T>A
XR_001756010.2:n.4355T>A
XR_001756011.2:n.4220T>A
XR_001756012.2:n.4368T>A
XR_001756013.2:n.3686T>A
XR_002958832.1:n.3787T>A
XR_002958834.1:n.4011T>A
XR_002958835.1:n.3894T>A
XR_002958836.1:n.4577T>A
XR_002958837.1:n.4384T>A
XR_244571.4:n.3904T>A
XR_430568.4:n.4238T>A
NM_001146706.2:c.3446T>A	NP_001140178.1:p.Leu1149His
NM_004653.5:c.3617T>A MANE Select	NP_004644.2:p.Leu1206His
NM_001146705.2:c.3710T>A	NP_001140177.1:p.Leu1237His