Canonical Allele Identifier: CA414843954

Gene: KDM5D

Linked Data

• dbSNP Id: rs1363287921
• gnomAD v2: Y-21869550-G-A
• MyVariant Identifiers: chrY:g.21869550G>A (hg19) ; chrY:g.19707664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707664G>A , CM000686.2:g.19707664G>A	GRCh38
NC_000024.9:g.21869550G>A , CM000686.1:g.21869550G>A	GRCh37
NC_000024.8:g.20328938G>A	NCBI36
NG_032920.1:g.42276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3482C>T MANE Select	ENSP00000322408.4:p.Pro1161Leu
ENST00000317961.8:c.3482C>T	ENSP00000322408.4:p.Pro1161Leu
ENST00000382806.6:c.3311C>T	ENSP00000372256.2:p.Pro1104Leu
ENST00000415360.1:c.398C>T	ENSP00000389433.1:p.Pro133Leu
ENST00000440077.5:c.3359C>T	ENSP00000398543.1:p.Pro1120Leu
ENST00000469599.6:n.2080C>T
ENST00000492117.1:n.3374C>T
ENST00000541639.5:c.3575C>T	ENSP00000444293.1:p.Pro1192Leu
NM_001146705.1:c.3575C>T	NP_001140177.1:p.Pro1192Leu
NM_001146706.1:c.3311C>T	NP_001140178.1:p.Pro1104Leu
NM_004653.4:c.3482C>T	NP_004644.2:p.Pro1161Leu
XM_005262560.1:c.3347C>T	XP_005262617.1:p.Pro1116Leu
XM_005262561.1:c.3251C>T	XP_005262618.1:p.Pro1084Leu
XM_011531468.1:c.3404C>T	XP_011529770.1:p.Pro1135Leu
XR_244571.2:n.3770C>T
XR_430568.2:n.4104C>T
XM_005262560.3:c.3347C>T	XP_005262617.1:p.Pro1116Leu
XM_005262561.3:c.3251C>T	XP_005262618.1:p.Pro1084Leu
XM_011531468.3:c.3404C>T	XP_011529770.1:p.Pro1135Leu
XM_024452495.1:c.1472C>T	XP_024308263.1:p.Pro491Leu
XM_024452496.1:c.1238C>T	XP_024308264.1:p.Pro413Leu
XR_001756009.2:n.4220C>T
XR_001756010.2:n.4220C>T
XR_001756011.2:n.4085C>T
XR_001756012.2:n.4233C>T
XR_001756013.2:n.3551C>T
XR_002958832.1:n.3652C>T
XR_002958834.1:n.3876C>T
XR_002958835.1:n.3759C>T
XR_002958836.1:n.4442C>T
XR_002958837.1:n.4249C>T
XR_244571.4:n.3769C>T
XR_430568.4:n.4103C>T
NM_001146706.2:c.3311C>T	NP_001140178.1:p.Pro1104Leu
NM_004653.5:c.3482C>T MANE Select	NP_004644.2:p.Pro1161Leu
NM_001146705.2:c.3575C>T	NP_001140177.1:p.Pro1192Leu