Canonical Allele Identifier: CA414132540

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938111A>T (hg19) ; chrX:g.108694881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694881A>T , CM000685.2:g.108694881A>T	GRCh38
NC_000023.10:g.107938111A>T , CM000685.1:g.107938111A>T	GRCh37
NC_000023.9:g.107824767A>T	NCBI36
NG_011977.1:g.259958A>T
NG_011977.2:g.259958A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4781A>T MANE Select	ENSP00000331902.7:p.Gln1594Leu
ENST00000361603.7:c.4763A>T	ENSP00000354505.2:p.Gln1588Leu
ENST00000510690.2:n.1275A>T
ENST00000644079.1:n.1267A>T
ENST00000328300.10:c.4781A>T	ENSP00000331902.6:p.Gln1594Leu
ENST00000361603.6:c.4763A>T	ENSP00000354505.2:p.Gln1588Leu
ENST00000504541.1:c.179A>T	ENSP00000424845.1:p.Gln60Leu
ENST00000515658.1:c.325-1416A>T
NM_000495.4:c.4763A>T	NP_000486.1:p.Gln1588Leu
NM_033380.2:c.4781A>T	NP_203699.1:p.Gln1594Leu
XM_005262070.2:c.4772A>T	XP_005262127.1:p.Gln1591Leu
XM_006724616.2:c.4781A>T	XP_006724679.1:p.Gln1594Leu
XM_011530849.1:c.4457A>T	XP_011529151.1:p.Gln1486Leu
XM_011530851.1:c.2354A>T	XP_011529153.1:p.Gln785Leu
XM_011530849.2:c.4796A>T	XP_011529151.2:p.Gln1599Leu
XM_017029259.2:c.4787A>T	XP_016884748.1:p.Gln1596Leu
XM_017029260.1:c.4778A>T	XP_016884749.1:p.Gln1593Leu
XM_017029263.2:c.3116A>T	XP_016884752.1:p.Gln1039Leu
NM_000495.5:c.4763A>T	NP_000486.1:p.Gln1588Leu
NM_033380.3:c.4781A>T MANE Select	NP_203699.1:p.Gln1594Leu