Canonical Allele Identifier: CA414844005

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869563C>A (hg19) ; chrY:g.19707677C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707677C>A , CM000686.2:g.19707677C>A	GRCh38
NC_000024.9:g.21869563C>A , CM000686.1:g.21869563C>A	GRCh37
NC_000024.8:g.20328951C>A	NCBI36
NG_032920.1:g.42263G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3469G>T MANE Select	ENSP00000322408.4:p.Ala1157Ser
ENST00000317961.8:c.3469G>T	ENSP00000322408.4:p.Ala1157Ser
ENST00000382806.6:c.3298G>T	ENSP00000372256.2:p.Ala1100Ser
ENST00000415360.1:c.385G>T	ENSP00000389433.1:p.Ala129Ser
ENST00000440077.5:c.3346G>T	ENSP00000398543.1:p.Ala1116Ser
ENST00000469599.6:n.2067G>T
ENST00000492117.1:n.3361G>T
ENST00000541639.5:c.3562G>T	ENSP00000444293.1:p.Ala1188Ser
NM_001146705.1:c.3562G>T	NP_001140177.1:p.Ala1188Ser
NM_001146706.1:c.3298G>T	NP_001140178.1:p.Ala1100Ser
NM_004653.4:c.3469G>T	NP_004644.2:p.Ala1157Ser
XM_005262560.1:c.3334G>T	XP_005262617.1:p.Ala1112Ser
XM_005262561.1:c.3238G>T	XP_005262618.1:p.Ala1080Ser
XM_011531468.1:c.3391G>T	XP_011529770.1:p.Ala1131Ser
XR_244571.2:n.3757G>T
XR_430568.2:n.4091G>T
XM_005262560.3:c.3334G>T	XP_005262617.1:p.Ala1112Ser
XM_005262561.3:c.3238G>T	XP_005262618.1:p.Ala1080Ser
XM_011531468.3:c.3391G>T	XP_011529770.1:p.Ala1131Ser
XM_024452495.1:c.1459G>T	XP_024308263.1:p.Ala487Ser
XM_024452496.1:c.1225G>T	XP_024308264.1:p.Ala409Ser
XR_001756009.2:n.4207G>T
XR_001756010.2:n.4207G>T
XR_001756011.2:n.4072G>T
XR_001756012.2:n.4220G>T
XR_001756013.2:n.3538G>T
XR_002958832.1:n.3639G>T
XR_002958834.1:n.3863G>T
XR_002958835.1:n.3746G>T
XR_002958836.1:n.4429G>T
XR_002958837.1:n.4236G>T
XR_244571.4:n.3756G>T
XR_430568.4:n.4090G>T
NM_001146706.2:c.3298G>T	NP_001140178.1:p.Ala1100Ser
NM_004653.5:c.3469G>T MANE Select	NP_004644.2:p.Ala1157Ser
NM_001146705.2:c.3562G>T	NP_001140177.1:p.Ala1188Ser