Canonical Allele Identifier: CA414843927

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869541G>A (hg19) ; chrY:g.19707655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707655G>A , CM000686.2:g.19707655G>A	GRCh38
NC_000024.9:g.21869541G>A , CM000686.1:g.21869541G>A	GRCh37
NC_000024.8:g.20328929G>A	NCBI36
NG_032920.1:g.42285C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3491C>T MANE Select	ENSP00000322408.4:p.Pro1164Leu
ENST00000317961.8:c.3491C>T	ENSP00000322408.4:p.Pro1164Leu
ENST00000382806.6:c.3320C>T	ENSP00000372256.2:p.Pro1107Leu
ENST00000415360.1:c.407C>T	ENSP00000389433.1:p.Pro136Leu
ENST00000440077.5:c.3368C>T	ENSP00000398543.1:p.Pro1123Leu
ENST00000469599.6:n.2089C>T
ENST00000492117.1:n.3383C>T
ENST00000541639.5:c.3584C>T	ENSP00000444293.1:p.Pro1195Leu
NM_001146705.1:c.3584C>T	NP_001140177.1:p.Pro1195Leu
NM_001146706.1:c.3320C>T	NP_001140178.1:p.Pro1107Leu
NM_004653.4:c.3491C>T	NP_004644.2:p.Pro1164Leu
XM_005262560.1:c.3356C>T	XP_005262617.1:p.Pro1119Leu
XM_005262561.1:c.3260C>T	XP_005262618.1:p.Pro1087Leu
XM_011531468.1:c.3413C>T	XP_011529770.1:p.Pro1138Leu
XR_244571.2:n.3779C>T
XR_430568.2:n.4113C>T
XM_005262560.3:c.3356C>T	XP_005262617.1:p.Pro1119Leu
XM_005262561.3:c.3260C>T	XP_005262618.1:p.Pro1087Leu
XM_011531468.3:c.3413C>T	XP_011529770.1:p.Pro1138Leu
XM_024452495.1:c.1481C>T	XP_024308263.1:p.Pro494Leu
XM_024452496.1:c.1247C>T	XP_024308264.1:p.Pro416Leu
XR_001756009.2:n.4229C>T
XR_001756010.2:n.4229C>T
XR_001756011.2:n.4094C>T
XR_001756012.2:n.4242C>T
XR_001756013.2:n.3560C>T
XR_002958832.1:n.3661C>T
XR_002958834.1:n.3885C>T
XR_002958835.1:n.3768C>T
XR_002958836.1:n.4451C>T
XR_002958837.1:n.4258C>T
XR_244571.4:n.3778C>T
XR_430568.4:n.4112C>T
NM_001146706.2:c.3320C>T	NP_001140178.1:p.Pro1107Leu
NM_004653.5:c.3491C>T MANE Select	NP_004644.2:p.Pro1164Leu
NM_001146705.2:c.3584C>T	NP_001140177.1:p.Pro1195Leu