Canonical Allele Identifier: CA414844010

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869565G>A (hg19) ; chrY:g.19707679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707679G>A , CM000686.2:g.19707679G>A	GRCh38
NC_000024.9:g.21869565G>A , CM000686.1:g.21869565G>A	GRCh37
NC_000024.8:g.20328953G>A	NCBI36
NG_032920.1:g.42261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3467C>T MANE Select	ENSP00000322408.4:p.Ser1156Leu
ENST00000317961.8:c.3467C>T	ENSP00000322408.4:p.Ser1156Leu
ENST00000382806.6:c.3296C>T	ENSP00000372256.2:p.Ser1099Leu
ENST00000415360.1:c.383C>T	ENSP00000389433.1:p.Ser128Leu
ENST00000440077.5:c.3344C>T	ENSP00000398543.1:p.Ser1115Leu
ENST00000469599.6:n.2065C>T
ENST00000492117.1:n.3359C>T
ENST00000541639.5:c.3560C>T	ENSP00000444293.1:p.Ser1187Leu
NM_001146705.1:c.3560C>T	NP_001140177.1:p.Ser1187Leu
NM_001146706.1:c.3296C>T	NP_001140178.1:p.Ser1099Leu
NM_004653.4:c.3467C>T	NP_004644.2:p.Ser1156Leu
XM_005262560.1:c.3332C>T	XP_005262617.1:p.Ser1111Leu
XM_005262561.1:c.3236C>T	XP_005262618.1:p.Ser1079Leu
XM_011531468.1:c.3389C>T	XP_011529770.1:p.Ser1130Leu
XR_244571.2:n.3755C>T
XR_430568.2:n.4089C>T
XM_005262560.3:c.3332C>T	XP_005262617.1:p.Ser1111Leu
XM_005262561.3:c.3236C>T	XP_005262618.1:p.Ser1079Leu
XM_011531468.3:c.3389C>T	XP_011529770.1:p.Ser1130Leu
XM_024452495.1:c.1457C>T	XP_024308263.1:p.Ser486Leu
XM_024452496.1:c.1223C>T	XP_024308264.1:p.Ser408Leu
XR_001756009.2:n.4205C>T
XR_001756010.2:n.4205C>T
XR_001756011.2:n.4070C>T
XR_001756012.2:n.4218C>T
XR_001756013.2:n.3536C>T
XR_002958832.1:n.3637C>T
XR_002958834.1:n.3861C>T
XR_002958835.1:n.3744C>T
XR_002958836.1:n.4427C>T
XR_002958837.1:n.4234C>T
XR_244571.4:n.3754C>T
XR_430568.4:n.4088C>T
NM_001146706.2:c.3296C>T	NP_001140178.1:p.Ser1099Leu
NM_004653.5:c.3467C>T MANE Select	NP_004644.2:p.Ser1156Leu
NM_001146705.2:c.3560C>T	NP_001140177.1:p.Ser1187Leu