Canonical Allele Identifier: CA414843154

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869328A>C (hg19) ; chrY:g.19707442A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707442A>C , CM000686.2:g.19707442A>C	GRCh38
NC_000024.9:g.21869328A>C , CM000686.1:g.21869328A>C	GRCh37
NC_000024.8:g.20328716A>C	NCBI36
NG_032920.1:g.42498T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3704T>G MANE Select	ENSP00000322408.4:p.Met1235Arg
ENST00000317961.8:c.3704T>G	ENSP00000322408.4:p.Met1235Arg
ENST00000382806.6:c.3533T>G	ENSP00000372256.2:p.Met1178Arg
ENST00000415360.1:c.620T>G	ENSP00000389433.1:p.Met207Arg
ENST00000440077.5:c.3581T>G	ENSP00000398543.1:p.Met1194Arg
ENST00000469599.6:n.2302T>G
ENST00000492117.1:n.3596T>G
ENST00000541639.5:c.3797T>G	ENSP00000444293.1:p.Met1266Arg
NM_001146705.1:c.3797T>G	NP_001140177.1:p.Met1266Arg
NM_001146706.1:c.3533T>G	NP_001140178.1:p.Met1178Arg
NM_004653.4:c.3704T>G	NP_004644.2:p.Met1235Arg
XM_005262560.1:c.3569T>G	XP_005262617.1:p.Met1190Arg
XM_005262561.1:c.3473T>G	XP_005262618.1:p.Met1158Arg
XM_011531468.1:c.3626T>G	XP_011529770.1:p.Met1209Arg
XR_244571.2:n.3992T>G
XR_430568.2:n.4326T>G
XM_005262560.3:c.3569T>G	XP_005262617.1:p.Met1190Arg
XM_005262561.3:c.3473T>G	XP_005262618.1:p.Met1158Arg
XM_011531468.3:c.3626T>G	XP_011529770.1:p.Met1209Arg
XM_024452495.1:c.1694T>G	XP_024308263.1:p.Met565Arg
XM_024452496.1:c.1460T>G	XP_024308264.1:p.Met487Arg
XR_001756009.2:n.4442T>G
XR_001756010.2:n.4442T>G
XR_001756011.2:n.4307T>G
XR_001756012.2:n.4455T>G
XR_001756013.2:n.3773T>G
XR_002958832.1:n.3874T>G
XR_002958834.1:n.4098T>G
XR_002958835.1:n.3981T>G
XR_002958836.1:n.4664T>G
XR_002958837.1:n.4471T>G
XR_244571.4:n.3991T>G
XR_430568.4:n.4325T>G
NM_001146706.2:c.3533T>G	NP_001140178.1:p.Met1178Arg
NM_004653.5:c.3704T>G MANE Select	NP_004644.2:p.Met1235Arg
NM_001146705.2:c.3797T>G	NP_001140177.1:p.Met1266Arg