Canonical Allele Identifier: CA414844330

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869849C>A (hg19) ; chrY:g.19707963C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707963C>A , CM000686.2:g.19707963C>A	GRCh38
NC_000024.9:g.21869849C>A , CM000686.1:g.21869849C>A	GRCh37
NC_000024.8:g.20329237C>A	NCBI36
NG_032920.1:g.41977G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3370G>T MANE Select	ENSP00000322408.4:p.Ala1124Ser
ENST00000317961.8:c.3370G>T	ENSP00000322408.4:p.Ala1124Ser
ENST00000382806.6:c.3199G>T	ENSP00000372256.2:p.Ala1067Ser
ENST00000415360.1:c.286G>T	ENSP00000389433.1:p.Ala96Ser
ENST00000440077.5:c.3247G>T	ENSP00000398543.1:p.Ala1083Ser
ENST00000469599.6:n.1968G>T
ENST00000492117.1:n.3262G>T
ENST00000541639.5:c.3463G>T	ENSP00000444293.1:p.Ala1155Ser
NM_001146705.1:c.3463G>T	NP_001140177.1:p.Ala1155Ser
NM_001146706.1:c.3199G>T	NP_001140178.1:p.Ala1067Ser
NM_004653.4:c.3370G>T	NP_004644.2:p.Ala1124Ser
XM_005262560.1:c.3235G>T	XP_005262617.1:p.Ala1079Ser
XM_005262561.1:c.3139G>T	XP_005262618.1:p.Ala1047Ser
XM_011531468.1:c.3292G>T	XP_011529770.1:p.Ala1098Ser
XR_244571.2:n.3658G>T
XR_430568.2:n.3992G>T
XM_005262560.3:c.3235G>T	XP_005262617.1:p.Ala1079Ser
XM_005262561.3:c.3139G>T	XP_005262618.1:p.Ala1047Ser
XM_011531468.3:c.3292G>T	XP_011529770.1:p.Ala1098Ser
XM_024452495.1:c.1360G>T	XP_024308263.1:p.Ala454Ser
XM_024452496.1:c.1126G>T	XP_024308264.1:p.Ala376Ser
XR_001756009.2:n.4108G>T
XR_001756010.2:n.4108G>T
XR_001756011.2:n.3973G>T
XR_001756012.2:n.4121G>T
XR_001756013.2:n.3439G>T
XR_002958832.1:n.3540G>T
XR_002958834.1:n.3764G>T
XR_002958835.1:n.3647G>T
XR_002958836.1:n.4330G>T
XR_002958837.1:n.4137G>T
XR_244571.4:n.3657G>T
XR_430568.4:n.3991G>T
NM_001146706.2:c.3199G>T	NP_001140178.1:p.Ala1067Ser
NM_004653.5:c.3370G>T MANE Select	NP_004644.2:p.Ala1124Ser
NM_001146705.2:c.3463G>T	NP_001140177.1:p.Ala1155Ser