Canonical Allele Identifier: CA414843860

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869521G>A (hg19) ; chrY:g.19707635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707635G>A , CM000686.2:g.19707635G>A	GRCh38
NC_000024.9:g.21869521G>A , CM000686.1:g.21869521G>A	GRCh37
NC_000024.8:g.20328909G>A	NCBI36
NG_032920.1:g.42305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3511C>T MANE Select	ENSP00000322408.4:p.Pro1171Ser
ENST00000317961.8:c.3511C>T	ENSP00000322408.4:p.Pro1171Ser
ENST00000382806.6:c.3340C>T	ENSP00000372256.2:p.Pro1114Ser
ENST00000415360.1:c.427C>T	ENSP00000389433.1:p.Pro143Ser
ENST00000440077.5:c.3388C>T	ENSP00000398543.1:p.Pro1130Ser
ENST00000469599.6:n.2109C>T
ENST00000492117.1:n.3403C>T
ENST00000541639.5:c.3604C>T	ENSP00000444293.1:p.Pro1202Ser
NM_001146705.1:c.3604C>T	NP_001140177.1:p.Pro1202Ser
NM_001146706.1:c.3340C>T	NP_001140178.1:p.Pro1114Ser
NM_004653.4:c.3511C>T	NP_004644.2:p.Pro1171Ser
XM_005262560.1:c.3376C>T	XP_005262617.1:p.Pro1126Ser
XM_005262561.1:c.3280C>T	XP_005262618.1:p.Pro1094Ser
XM_011531468.1:c.3433C>T	XP_011529770.1:p.Pro1145Ser
XR_244571.2:n.3799C>T
XR_430568.2:n.4133C>T
XM_005262560.3:c.3376C>T	XP_005262617.1:p.Pro1126Ser
XM_005262561.3:c.3280C>T	XP_005262618.1:p.Pro1094Ser
XM_011531468.3:c.3433C>T	XP_011529770.1:p.Pro1145Ser
XM_024452495.1:c.1501C>T	XP_024308263.1:p.Pro501Ser
XM_024452496.1:c.1267C>T	XP_024308264.1:p.Pro423Ser
XR_001756009.2:n.4249C>T
XR_001756010.2:n.4249C>T
XR_001756011.2:n.4114C>T
XR_001756012.2:n.4262C>T
XR_001756013.2:n.3580C>T
XR_002958832.1:n.3681C>T
XR_002958834.1:n.3905C>T
XR_002958835.1:n.3788C>T
XR_002958836.1:n.4471C>T
XR_002958837.1:n.4278C>T
XR_244571.4:n.3798C>T
XR_430568.4:n.4132C>T
NM_001146706.2:c.3340C>T	NP_001140178.1:p.Pro1114Ser
NM_004653.5:c.3511C>T MANE Select	NP_004644.2:p.Pro1171Ser
NM_001146705.2:c.3604C>T	NP_001140177.1:p.Pro1202Ser