Canonical Allele Identifier: CA414839941

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867940C>A (hg19) ; chrY:g.19706054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706054C>A , CM000686.2:g.19706054C>A	GRCh38
NC_000024.9:g.21867940C>A , CM000686.1:g.21867940C>A	GRCh37
NC_000024.8:g.20327328C>A	NCBI36
NG_032920.1:g.43886G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4561G>T MANE Select	ENSP00000322408.4:p.Ala1521Ser
ENST00000317961.8:c.4561G>T	ENSP00000322408.4:p.Ala1521Ser
ENST00000382806.6:c.4390G>T	ENSP00000372256.2:p.Ala1464Ser
ENST00000469599.6:n.3312G>T
ENST00000492117.1:n.4606G>T
ENST00000541639.5:c.4654G>T	ENSP00000444293.1:p.Ala1552Ser
NM_001146705.1:c.4654G>T	NP_001140177.1:p.Ala1552Ser
NM_001146706.1:c.4390G>T	NP_001140178.1:p.Ala1464Ser
NM_004653.4:c.4561G>T	NP_004644.2:p.Ala1521Ser
XM_005262560.1:c.4426G>T	XP_005262617.1:p.Ala1476Ser
XM_005262561.1:c.4330G>T	XP_005262618.1:p.Ala1444Ser
XM_011531468.1:c.4483G>T	XP_011529770.1:p.Ala1495Ser
XR_430568.2:n.5336G>T
XM_005262560.3:c.4426G>T	XP_005262617.1:p.Ala1476Ser
XM_005262561.3:c.4330G>T	XP_005262618.1:p.Ala1444Ser
XM_011531468.3:c.4483G>T	XP_011529770.1:p.Ala1495Ser
XM_024452495.1:c.2551G>T	XP_024308263.1:p.Ala851Ser
XM_024452496.1:c.2317G>T	XP_024308264.1:p.Ala773Ser
XR_001756009.2:n.5299G>T
XR_001756010.2:n.5267G>T
XR_001756011.2:n.5164G>T
XR_001756012.2:n.5312G>T
XR_001756013.2:n.4630G>T
XR_002958832.1:n.4884G>T
XR_002958834.1:n.4955G>T
XR_002958835.1:n.4838G>T
XR_002958836.1:n.5489G>T
XR_002958837.1:n.5296G>T
XR_244571.4:n.4816G>T
XR_430568.4:n.5335G>T
NM_001146706.2:c.4390G>T	NP_001140178.1:p.Ala1464Ser
NM_004653.5:c.4561G>T MANE Select	NP_004644.2:p.Ala1521Ser
NM_001146705.2:c.4654G>T	NP_001140177.1:p.Ala1552Ser