Canonical Allele Identifier: CA414844372

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869863A>T (hg19) ; chrY:g.19707977A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707977A>T , CM000686.2:g.19707977A>T	GRCh38
NC_000024.9:g.21869863A>T , CM000686.1:g.21869863A>T	GRCh37
NC_000024.8:g.20329251A>T	NCBI36
NG_032920.1:g.41963T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3356T>A MANE Select	ENSP00000322408.4:p.Leu1119Gln
ENST00000317961.8:c.3356T>A	ENSP00000322408.4:p.Leu1119Gln
ENST00000382806.6:c.3185T>A	ENSP00000372256.2:p.Leu1062Gln
ENST00000415360.1:c.272T>A	ENSP00000389433.1:p.Leu91Gln
ENST00000440077.5:c.3233T>A	ENSP00000398543.1:p.Leu1078Gln
ENST00000469599.6:n.1954T>A
ENST00000492117.1:n.3248T>A
ENST00000541639.5:c.3449T>A	ENSP00000444293.1:p.Leu1150Gln
NM_001146705.1:c.3449T>A	NP_001140177.1:p.Leu1150Gln
NM_001146706.1:c.3185T>A	NP_001140178.1:p.Leu1062Gln
NM_004653.4:c.3356T>A	NP_004644.2:p.Leu1119Gln
XM_005262560.1:c.3221T>A	XP_005262617.1:p.Leu1074Gln
XM_005262561.1:c.3125T>A	XP_005262618.1:p.Leu1042Gln
XM_011531468.1:c.3278T>A	XP_011529770.1:p.Leu1093Gln
XR_244571.2:n.3644T>A
XR_430568.2:n.3978T>A
XM_005262560.3:c.3221T>A	XP_005262617.1:p.Leu1074Gln
XM_005262561.3:c.3125T>A	XP_005262618.1:p.Leu1042Gln
XM_011531468.3:c.3278T>A	XP_011529770.1:p.Leu1093Gln
XM_024452495.1:c.1346T>A	XP_024308263.1:p.Leu449Gln
XM_024452496.1:c.1112T>A	XP_024308264.1:p.Leu371Gln
XR_001756009.2:n.4094T>A
XR_001756010.2:n.4094T>A
XR_001756011.2:n.3959T>A
XR_001756012.2:n.4107T>A
XR_001756013.2:n.3425T>A
XR_002958832.1:n.3526T>A
XR_002958834.1:n.3750T>A
XR_002958835.1:n.3633T>A
XR_002958836.1:n.4316T>A
XR_002958837.1:n.4123T>A
XR_244571.4:n.3643T>A
XR_430568.4:n.3977T>A
NM_001146706.2:c.3185T>A	NP_001140178.1:p.Leu1062Gln
NM_004653.5:c.3356T>A MANE Select	NP_004644.2:p.Leu1119Gln
NM_001146705.2:c.3449T>A	NP_001140177.1:p.Leu1150Gln