Canonical Allele Identifier: CA414844243

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869824G>A (hg19) ; chrY:g.19707938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707938G>A , CM000686.2:g.19707938G>A	GRCh38
NC_000024.9:g.21869824G>A , CM000686.1:g.21869824G>A	GRCh37
NC_000024.8:g.20329212G>A	NCBI36
NG_032920.1:g.42002C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3395C>T MANE Select	ENSP00000322408.4:p.Ser1132Phe
ENST00000317961.8:c.3395C>T	ENSP00000322408.4:p.Ser1132Phe
ENST00000382806.6:c.3224C>T	ENSP00000372256.2:p.Ser1075Phe
ENST00000415360.1:c.311C>T	ENSP00000389433.1:p.Ser104Phe
ENST00000440077.5:c.3272C>T	ENSP00000398543.1:p.Ser1091Phe
ENST00000469599.6:n.1993C>T
ENST00000492117.1:n.3287C>T
ENST00000541639.5:c.3488C>T	ENSP00000444293.1:p.Ser1163Phe
NM_001146705.1:c.3488C>T	NP_001140177.1:p.Ser1163Phe
NM_001146706.1:c.3224C>T	NP_001140178.1:p.Ser1075Phe
NM_004653.4:c.3395C>T	NP_004644.2:p.Ser1132Phe
XM_005262560.1:c.3260C>T	XP_005262617.1:p.Ser1087Phe
XM_005262561.1:c.3164C>T	XP_005262618.1:p.Ser1055Phe
XM_011531468.1:c.3317C>T	XP_011529770.1:p.Ser1106Phe
XR_244571.2:n.3683C>T
XR_430568.2:n.4017C>T
XM_005262560.3:c.3260C>T	XP_005262617.1:p.Ser1087Phe
XM_005262561.3:c.3164C>T	XP_005262618.1:p.Ser1055Phe
XM_011531468.3:c.3317C>T	XP_011529770.1:p.Ser1106Phe
XM_024452495.1:c.1385C>T	XP_024308263.1:p.Ser462Phe
XM_024452496.1:c.1151C>T	XP_024308264.1:p.Ser384Phe
XR_001756009.2:n.4133C>T
XR_001756010.2:n.4133C>T
XR_001756011.2:n.3998C>T
XR_001756012.2:n.4146C>T
XR_001756013.2:n.3464C>T
XR_002958832.1:n.3565C>T
XR_002958834.1:n.3789C>T
XR_002958835.1:n.3672C>T
XR_002958836.1:n.4355C>T
XR_002958837.1:n.4162C>T
XR_244571.4:n.3682C>T
XR_430568.4:n.4016C>T
NM_001146706.2:c.3224C>T	NP_001140178.1:p.Ser1075Phe
NM_004653.5:c.3395C>T MANE Select	NP_004644.2:p.Ser1132Phe
NM_001146705.2:c.3488C>T	NP_001140177.1:p.Ser1163Phe