Canonical Allele Identifier: CA414133000

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938663T>C (hg19) ; chrX:g.108695433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695433T>C , CM000685.2:g.108695433T>C	GRCh38
NC_000023.10:g.107938663T>C , CM000685.1:g.107938663T>C	GRCh37
NC_000023.9:g.107825319T>C	NCBI36
NG_011977.1:g.260510T>C
NG_011977.2:g.260510T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4988T>C MANE Select	ENSP00000331902.7:p.Met1663Thr
ENST00000361603.7:c.4970T>C	ENSP00000354505.2:p.Met1657Thr
ENST00000510690.2:n.1482T>C
ENST00000644079.1:n.1819T>C
ENST00000328300.10:c.4988T>C	ENSP00000331902.6:p.Met1663Thr
ENST00000361603.6:c.4970T>C	ENSP00000354505.2:p.Met1657Thr
ENST00000504541.1:c.219+512T>C	ENSP00000424845.1:n.219+512T>C
ENST00000515658.1:c.325-864T>C
NM_000495.4:c.4970T>C	NP_000486.1:p.Met1657Thr
NM_033380.2:c.4988T>C	NP_203699.1:p.Met1663Thr
XM_005262070.2:c.4979T>C	XP_005262127.1:p.Met1660Thr
XM_006724616.2:c.4988T>C	XP_006724679.1:p.Met1663Thr
XM_011530849.1:c.4664T>C	XP_011529151.1:p.Met1555Thr
XM_011530851.1:c.2561T>C	XP_011529153.1:p.Met854Thr
XM_011530849.2:c.5003T>C	XP_011529151.2:p.Met1668Thr
XM_017029259.2:c.4994T>C	XP_016884748.1:p.Met1665Thr
XM_017029260.1:c.4985T>C	XP_016884749.1:p.Met1662Thr
XM_017029263.2:c.3323T>C	XP_016884752.1:p.Met1108Thr
NM_000495.5:c.4970T>C	NP_000486.1:p.Met1657Thr
NM_033380.3:c.4988T>C MANE Select	NP_203699.1:p.Met1663Thr