Canonical Allele Identifier: CA414843425

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869406G>A (hg19) ; chrY:g.19707520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707520G>A , CM000686.2:g.19707520G>A	GRCh38
NC_000024.9:g.21869406G>A , CM000686.1:g.21869406G>A	GRCh37
NC_000024.8:g.20328794G>A	NCBI36
NG_032920.1:g.42420C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3626C>T MANE Select	ENSP00000322408.4:p.Ser1209Phe
ENST00000317961.8:c.3626C>T	ENSP00000322408.4:p.Ser1209Phe
ENST00000382806.6:c.3455C>T	ENSP00000372256.2:p.Ser1152Phe
ENST00000415360.1:c.542C>T	ENSP00000389433.1:p.Ser181Phe
ENST00000440077.5:c.3503C>T	ENSP00000398543.1:p.Ser1168Phe
ENST00000469599.6:n.2224C>T
ENST00000492117.1:n.3518C>T
ENST00000541639.5:c.3719C>T	ENSP00000444293.1:p.Ser1240Phe
NM_001146705.1:c.3719C>T	NP_001140177.1:p.Ser1240Phe
NM_001146706.1:c.3455C>T	NP_001140178.1:p.Ser1152Phe
NM_004653.4:c.3626C>T	NP_004644.2:p.Ser1209Phe
XM_005262560.1:c.3491C>T	XP_005262617.1:p.Ser1164Phe
XM_005262561.1:c.3395C>T	XP_005262618.1:p.Ser1132Phe
XM_011531468.1:c.3548C>T	XP_011529770.1:p.Ser1183Phe
XR_244571.2:n.3914C>T
XR_430568.2:n.4248C>T
XM_005262560.3:c.3491C>T	XP_005262617.1:p.Ser1164Phe
XM_005262561.3:c.3395C>T	XP_005262618.1:p.Ser1132Phe
XM_011531468.3:c.3548C>T	XP_011529770.1:p.Ser1183Phe
XM_024452495.1:c.1616C>T	XP_024308263.1:p.Ser539Phe
XM_024452496.1:c.1382C>T	XP_024308264.1:p.Ser461Phe
XR_001756009.2:n.4364C>T
XR_001756010.2:n.4364C>T
XR_001756011.2:n.4229C>T
XR_001756012.2:n.4377C>T
XR_001756013.2:n.3695C>T
XR_002958832.1:n.3796C>T
XR_002958834.1:n.4020C>T
XR_002958835.1:n.3903C>T
XR_002958836.1:n.4586C>T
XR_002958837.1:n.4393C>T
XR_244571.4:n.3913C>T
XR_430568.4:n.4247C>T
NM_001146706.2:c.3455C>T	NP_001140178.1:p.Ser1152Phe
NM_004653.5:c.3626C>T MANE Select	NP_004644.2:p.Ser1209Phe
NM_001146705.2:c.3719C>T	NP_001140177.1:p.Ser1240Phe