Canonical Allele Identifier: CA413852023

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925028A>C (hg19) ; chrX:g.108681798A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681798A>C , CM000685.2:g.108681798A>C	GRCh38
NC_000023.10:g.107925028A>C , CM000685.1:g.107925028A>C	GRCh37
NC_000023.9:g.107811684A>C	NCBI36
NG_011977.1:g.246875A>C
NG_011977.2:g.246875A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4126A>C MANE Select	ENSP00000331902.7:p.Ile1376Leu
ENST00000361603.7:c.4108A>C	ENSP00000354505.2:p.Ile1370Leu
ENST00000510690.2:n.620A>C
ENST00000328300.10:c.4126A>C	ENSP00000331902.6:p.Ile1376Leu
ENST00000361603.6:c.4108A>C	ENSP00000354505.2:p.Ile1370Leu
ENST00000489230.1:n.529A>C
NM_000495.4:c.4108A>C	NP_000486.1:p.Ile1370Leu
NM_033380.2:c.4126A>C	NP_203699.1:p.Ile1376Leu
XM_005262070.2:c.4117A>C	XP_005262127.1:p.Ile1373Leu
XM_006724616.2:c.4126A>C	XP_006724679.1:p.Ile1376Leu
XM_011530849.1:c.3802A>C	XP_011529151.1:p.Ile1268Leu
XM_011530851.1:c.1699A>C	XP_011529153.1:p.Ile567Leu
XM_011530849.2:c.4141A>C	XP_011529151.2:p.Ile1381Leu
XM_017029259.2:c.4132A>C	XP_016884748.1:p.Ile1378Leu
XM_017029260.1:c.4123A>C	XP_016884749.1:p.Ile1375Leu
XM_017029263.2:c.2461A>C	XP_016884752.1:p.Ile821Leu
NM_000495.5:c.4108A>C	NP_000486.1:p.Ile1370Leu
NM_033380.3:c.4126A>C MANE Select	NP_203699.1:p.Ile1376Leu