Canonical Allele Identifier: CA304866404

Gene: INSR

Linked Data

• dbSNP Id: rs370295429
• gnomAD v4: 19-7184320-T-C
• MyVariant Identifiers: chr19:g.7184331T>C (hg19) ; chr19:g.7184320T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184320T>C , CM000681.2:g.7184320T>C	GRCh38
NC_000019.9:g.7184331T>C , CM000681.1:g.7184331T>C	GRCh37
NC_000019.8:g.7135331T>C	NCBI36
NG_008852.2:g.114681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.970A>G MANE Select	ENSP00000303830.4:p.Ser324Gly
ENST00000302850.9:c.970A>G	ENSP00000303830.4:p.Ser324Gly
ENST00000341500.9:c.970A>G	ENSP00000342838.4:p.Ser324Gly
ENST00000598216.1:n.945A>G
NM_000208.2:c.970A>G	NP_000199.2:p.Ser324Gly
NM_000208.3:c.970A>G	NP_000199.2:p.Ser324Gly
NM_001079817.1:c.970A>G	NP_001073285.1:p.Ser324Gly
NM_001079817.2:c.970A>G	NP_001073285.1:p.Ser324Gly
XM_011527988.1:c.1048A>G	XP_011526290.1:p.Ser350Gly
XM_011527989.1:c.1048A>G	XP_011526291.1:p.Ser350Gly
XM_011527988.2:c.970A>G	XP_011526290.2:p.Ser324Gly
XM_011527989.3:c.970A>G	XP_011526291.2:p.Ser324Gly
NM_000208.4:c.970A>G MANE Select	NP_000199.2:p.Ser324Gly
NM_001079817.3:c.970A>G	NP_001073285.1:p.Ser324Gly