Canonical Allele Identifier: CA414843417

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869404G>A (hg19) ; chrY:g.19707518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707518G>A , CM000686.2:g.19707518G>A	GRCh38
NC_000024.9:g.21869404G>A , CM000686.1:g.21869404G>A	GRCh37
NC_000024.8:g.20328792G>A	NCBI36
NG_032920.1:g.42422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3628C>T MANE Select	ENSP00000322408.4:p.Pro1210Ser
ENST00000317961.8:c.3628C>T	ENSP00000322408.4:p.Pro1210Ser
ENST00000382806.6:c.3457C>T	ENSP00000372256.2:p.Pro1153Ser
ENST00000415360.1:c.544C>T	ENSP00000389433.1:p.Pro182Ser
ENST00000440077.5:c.3505C>T	ENSP00000398543.1:p.Pro1169Ser
ENST00000469599.6:n.2226C>T
ENST00000492117.1:n.3520C>T
ENST00000541639.5:c.3721C>T	ENSP00000444293.1:p.Pro1241Ser
NM_001146705.1:c.3721C>T	NP_001140177.1:p.Pro1241Ser
NM_001146706.1:c.3457C>T	NP_001140178.1:p.Pro1153Ser
NM_004653.4:c.3628C>T	NP_004644.2:p.Pro1210Ser
XM_005262560.1:c.3493C>T	XP_005262617.1:p.Pro1165Ser
XM_005262561.1:c.3397C>T	XP_005262618.1:p.Pro1133Ser
XM_011531468.1:c.3550C>T	XP_011529770.1:p.Pro1184Ser
XR_244571.2:n.3916C>T
XR_430568.2:n.4250C>T
XM_005262560.3:c.3493C>T	XP_005262617.1:p.Pro1165Ser
XM_005262561.3:c.3397C>T	XP_005262618.1:p.Pro1133Ser
XM_011531468.3:c.3550C>T	XP_011529770.1:p.Pro1184Ser
XM_024452495.1:c.1618C>T	XP_024308263.1:p.Pro540Ser
XM_024452496.1:c.1384C>T	XP_024308264.1:p.Pro462Ser
XR_001756009.2:n.4366C>T
XR_001756010.2:n.4366C>T
XR_001756011.2:n.4231C>T
XR_001756012.2:n.4379C>T
XR_001756013.2:n.3697C>T
XR_002958832.1:n.3798C>T
XR_002958834.1:n.4022C>T
XR_002958835.1:n.3905C>T
XR_002958836.1:n.4588C>T
XR_002958837.1:n.4395C>T
XR_244571.4:n.3915C>T
XR_430568.4:n.4249C>T
NM_001146706.2:c.3457C>T	NP_001140178.1:p.Pro1153Ser
NM_004653.5:c.3628C>T MANE Select	NP_004644.2:p.Pro1210Ser
NM_001146705.2:c.3721C>T	NP_001140177.1:p.Pro1241Ser