Canonical Allele Identifier: CA414843385

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869397G>A (hg19) ; chrY:g.19707511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707511G>A , CM000686.2:g.19707511G>A	GRCh38
NC_000024.9:g.21869397G>A , CM000686.1:g.21869397G>A	GRCh37
NC_000024.8:g.20328785G>A	NCBI36
NG_032920.1:g.42429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3635C>T MANE Select	ENSP00000322408.4:p.Pro1212Leu
ENST00000317961.8:c.3635C>T	ENSP00000322408.4:p.Pro1212Leu
ENST00000382806.6:c.3464C>T	ENSP00000372256.2:p.Pro1155Leu
ENST00000415360.1:c.551C>T	ENSP00000389433.1:p.Pro184Leu
ENST00000440077.5:c.3512C>T	ENSP00000398543.1:p.Pro1171Leu
ENST00000469599.6:n.2233C>T
ENST00000492117.1:n.3527C>T
ENST00000541639.5:c.3728C>T	ENSP00000444293.1:p.Pro1243Leu
NM_001146705.1:c.3728C>T	NP_001140177.1:p.Pro1243Leu
NM_001146706.1:c.3464C>T	NP_001140178.1:p.Pro1155Leu
NM_004653.4:c.3635C>T	NP_004644.2:p.Pro1212Leu
XM_005262560.1:c.3500C>T	XP_005262617.1:p.Pro1167Leu
XM_005262561.1:c.3404C>T	XP_005262618.1:p.Pro1135Leu
XM_011531468.1:c.3557C>T	XP_011529770.1:p.Pro1186Leu
XR_244571.2:n.3923C>T
XR_430568.2:n.4257C>T
XM_005262560.3:c.3500C>T	XP_005262617.1:p.Pro1167Leu
XM_005262561.3:c.3404C>T	XP_005262618.1:p.Pro1135Leu
XM_011531468.3:c.3557C>T	XP_011529770.1:p.Pro1186Leu
XM_024452495.1:c.1625C>T	XP_024308263.1:p.Pro542Leu
XM_024452496.1:c.1391C>T	XP_024308264.1:p.Pro464Leu
XR_001756009.2:n.4373C>T
XR_001756010.2:n.4373C>T
XR_001756011.2:n.4238C>T
XR_001756012.2:n.4386C>T
XR_001756013.2:n.3704C>T
XR_002958832.1:n.3805C>T
XR_002958834.1:n.4029C>T
XR_002958835.1:n.3912C>T
XR_002958836.1:n.4595C>T
XR_002958837.1:n.4402C>T
XR_244571.4:n.3922C>T
XR_430568.4:n.4256C>T
NM_001146706.2:c.3464C>T	NP_001140178.1:p.Pro1155Leu
NM_004653.5:c.3635C>T MANE Select	NP_004644.2:p.Pro1212Leu
NM_001146705.2:c.3728C>T	NP_001140177.1:p.Pro1243Leu