Canonical Allele Identifier: CA413851107

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924122A>C (hg19) ; chrX:g.108680892A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680892A>C , CM000685.2:g.108680892A>C	GRCh38
NC_000023.10:g.107924122A>C , CM000685.1:g.107924122A>C	GRCh37
NC_000023.9:g.107810778A>C	NCBI36
NG_011977.1:g.245969A>C
NG_011977.2:g.245969A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4023A>C MANE Select	ENSP00000331902.7:p.Lys1341Asn
ENST00000361603.7:c.4005A>C	ENSP00000354505.2:p.Lys1335Asn
ENST00000510690.2:n.517A>C
ENST00000328300.10:c.4023A>C	ENSP00000331902.6:p.Lys1341Asn
ENST00000361603.6:c.4005A>C	ENSP00000354505.2:p.Lys1335Asn
ENST00000489230.1:n.426A>C
NM_000495.4:c.4005A>C	NP_000486.1:p.Lys1335Asn
NM_033380.2:c.4023A>C	NP_203699.1:p.Lys1341Asn
XM_005262070.2:c.4014A>C	XP_005262127.1:p.Lys1338Asn
XM_006724616.2:c.4023A>C	XP_006724679.1:p.Lys1341Asn
XM_011530849.1:c.3699A>C	XP_011529151.1:p.Lys1233Asn
XM_011530851.1:c.1596A>C	XP_011529153.1:p.Lys532Asn
XM_011530849.2:c.4038A>C	XP_011529151.2:p.Lys1346Asn
XM_017029259.2:c.4029A>C	XP_016884748.1:p.Lys1343Asn
XM_017029260.1:c.4020A>C	XP_016884749.1:p.Lys1340Asn
XM_017029263.2:c.2358A>C	XP_016884752.1:p.Lys786Asn
NM_000495.5:c.4005A>C	NP_000486.1:p.Lys1335Asn
NM_033380.3:c.4023A>C MANE Select	NP_203699.1:p.Lys1341Asn