Canonical Allele Identifier: CA414844369

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3356T>G MANE Select	ENSP00000322408.4:p.Leu1119Arg
ENST00000317961.8:c.3356T>G	ENSP00000322408.4:p.Leu1119Arg
ENST00000382806.6:c.3185T>G	ENSP00000372256.2:p.Leu1062Arg
ENST00000415360.1:c.272T>G	ENSP00000389433.1:p.Leu91Arg
ENST00000440077.5:c.3233T>G	ENSP00000398543.1:p.Leu1078Arg
ENST00000469599.6:n.1954T>G
ENST00000492117.1:n.3248T>G
ENST00000541639.5:c.3449T>G	ENSP00000444293.1:p.Leu1150Arg
NM_001146705.1:c.3449T>G	NP_001140177.1:p.Leu1150Arg
NM_001146706.1:c.3185T>G	NP_001140178.1:p.Leu1062Arg
NM_004653.4:c.3356T>G	NP_004644.2:p.Leu1119Arg
XM_005262560.1:c.3221T>G	XP_005262617.1:p.Leu1074Arg
XM_005262561.1:c.3125T>G	XP_005262618.1:p.Leu1042Arg
XM_011531468.1:c.3278T>G	XP_011529770.1:p.Leu1093Arg
XR_244571.2:n.3644T>G
XR_430568.2:n.3978T>G
XM_005262560.3:c.3221T>G	XP_005262617.1:p.Leu1074Arg
XM_005262561.3:c.3125T>G	XP_005262618.1:p.Leu1042Arg
XM_011531468.3:c.3278T>G	XP_011529770.1:p.Leu1093Arg
XM_024452495.1:c.1346T>G	XP_024308263.1:p.Leu449Arg
XM_024452496.1:c.1112T>G	XP_024308264.1:p.Leu371Arg
XR_001756009.2:n.4094T>G
XR_001756010.2:n.4094T>G
XR_001756011.2:n.3959T>G
XR_001756012.2:n.4107T>G
XR_001756013.2:n.3425T>G
XR_002958832.1:n.3526T>G
XR_002958834.1:n.3750T>G
XR_002958835.1:n.3633T>G
XR_002958836.1:n.4316T>G
XR_002958837.1:n.4123T>G
XR_244571.4:n.3643T>G
XR_430568.4:n.3977T>G
NM_001146706.2:c.3185T>G	NP_001140178.1:p.Leu1062Arg
NM_004653.5:c.3356T>G MANE Select	NP_004644.2:p.Leu1119Arg
NM_001146705.2:c.3449T>G	NP_001140177.1:p.Leu1150Arg